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NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg) AND Dominant dystrophic epidermolysis bullosa with absence of skin

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000144373.1

Allele description [Variation Report for NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)]

NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)
HGVS:
  • NC_000003.12:g.48578497C>T
  • NG_007065.1:g.21756G>A
  • NM_000094.4:c.5443G>AMANE SELECT
  • NP_000085.1:p.Gly1815Arg
  • NP_000085.1:p.Gly1815Arg
  • LRG_286t1:c.5443G>A
  • LRG_286:g.21756G>A
  • LRG_286p1:p.Gly1815Arg
  • NC_000003.11:g.48615930C>T
  • NM_000094.3:c.5443G>A
  • Q02388:p.Gly1815Arg
Protein change:
G1815R; GLY1815ARG
Links:
UniProtKB: Q02388#VAR_015520; OMIM: 120120.0025; dbSNP: rs121912841
NCBI 1000 Genomes Browser:
rs121912841
Molecular consequence:
  • NM_000094.4:c.5443G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dominant dystrophic epidermolysis bullosa with absence of skin
Synonyms:
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS; EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
Identifiers:
MONDO: MONDO:0007557; MedGen: C0268371; OMIM: 132000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189440ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedunknownnot provided

PubMed (1)
[See all records that cite this PMID]

Description

TOENAIL DYSTROPHY, ISOLATED

SCV000189440

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

Sato-Matsumura KC, Yasukawa K, Tomita Y, Shimizu H.

Arch Dermatol. 2002 Feb;138(2):269-71. No abstract available.

PubMed [citation]
PMID:
11843659

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 29, 2024