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dbVar

Database of genomic structural variation

nsv6314929

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,667

Description:NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs) AND multiple conditions
Publication(s):Christodoulou et al. 2001, Schaefer et al. 2013, Van Esch et al. 2008

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 62 SVs from 18 studies. See in: genome view

Submitted genomic154,030,617-154,032,283

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv6314929	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000023.11	ChrX	154,030,617	154,032,283
nsv6314929	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000023.10	ChrX	153,296,068	153,297,734

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976262	deletion	Multiple	Multiple	AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3; Atypical Rett syndrome; Autism, susceptibility to, X-linked 3; ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; MECP2-Related Disorders; MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome; See individual phenotypes in OMIM allelic variants; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome	Pathogenic	ClinVar	RCV002247744.2, VCV001684655.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv17976262	Submitted genomic	NC_000023.11:g.154 030617_154032283de l	GRCh38 (hg38)	NC_000023.11	ChrX	154,030,617	154,032,283
nssv17976262	Submitted genomic	NC_000023.10:g.153 296068_153297734de l	GRCh37 (hg19)	NC_000023.10	ChrX	153,296,068	153,297,734

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976262	GRCh37: NC_000023.10:g.153296068_153297734del, GRCh38: NC_000023.11:g.154030617_154032283del	deletion	germline	AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3; Atypical Rett syndrome; Autism, susceptibility to, X-linked 3; ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS; LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; MECP2-Related Disorders; MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome; See individual phenotypes in OMIM allelic variants; Severe neonatal-onset encephalopathy with microcephaly; Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome	Pathogenic	ClinVar	RCV002247744.2, VCV001684655.3

No genotype data were submitted for this variant

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