NM_021978.4(ST14):c.1315G>A (p.Gly439Ser) AND Ichthyosis, congenital, autosomal recessive 11

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001257918.1

Allele description [Variation Report for NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)]

NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)

Gene:
ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)
HGVS:
  • NC_000011.10:g.130196661G>A
  • NG_012132.1:g.41875G>A
  • NM_021978.4:c.1315G>AMANE SELECT
  • NP_068813.1:p.Gly439Ser
  • NC_000011.9:g.130066556G>A
  • NM_021978.3:c.1315G>A
Protein change:
G439S
Molecular consequence:
  • NM_021978.4:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ichthyosis, congenital, autosomal recessive 11 (ARCI11)
Synonyms:
Ichthyosis with hypotrichosis, autosomal recessive
Identifiers:
MONDO: MONDO:0011218; MedGen: C1835851; Orphanet: 91132; OMIM: 602400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434725University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenicinheritedresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes6not providednot providednot providednot providedresearch

Citations

PubMed

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W.

Eur J Dermatol. 2018 Apr 1;28(2):209-216. doi: 10.1684/ejd.2017.3210.

PubMed [citation]
PMID:
29611532
PMCID:
PMC8240033

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001434725.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Feb 6, 2021

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