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NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg) AND Recessive dystrophic epidermolysis bullosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000018993.28

Allele description [Variation Report for NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)]

NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg)

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.4783G>C (p.Gly1595Arg)
HGVS:
  • NC_000003.12:g.48581483C>G
  • NG_007065.1:g.18770G>C
  • NM_000094.4:c.4783G>CMANE SELECT
  • NP_000085.1:p.Gly1595Arg
  • LRG_286:g.18770G>C
  • NC_000003.11:g.48618916C>G
  • Q02388:p.Gly1595Arg
Protein change:
G1595R; GLY1595ARG
Links:
UniProtKB: Q02388#VAR_015519; OMIM: 120120.0024; dbSNP: rs121912840
NCBI 1000 Genomes Browser:
rs121912840
Molecular consequence:
  • NM_000094.4:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Recessive dystrophic epidermolysis bullosa (RDEB)
Synonyms:
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009179; MedGen: C0079474; Orphanet: 79408; Orphanet: 79409; OMIM: 226600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039280OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2002) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot 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 OMIM, SCV000039280.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese male patient with moderately severe epidermolysis bullosa dystrophica (226600), Sato-Matsumura et al. (2002) identified compound heterozygosity for a 4783G-C transversion in the COL7A1 gene, resulting in a gly1595-to-arg (G1595R) substitution, and an 8479C-T transition, resulting in a gln2827-to-ter (Q2827X; 120120.0043) substitution. The patient's father and his paternal grandmother, who were heterozygous for the G1595R mutation, displayed isolated toenail dystrophy (NDNC8; 607523) without skin fragility.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022