NM_000526.5(KRT14):c.92del (p.Ile31fs) AND Sjögren-Larsson syndrome

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:
RCV001291416.1

Allele description [Variation Report for NM_000526.5(KRT14):c.92del (p.Ile31fs)]

NM_000526.5(KRT14):c.92del (p.Ile31fs)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.92del (p.Ile31fs)
HGVS:
  • NC_000017.11:g.41586743del
  • NG_008624.1:g.5153del
  • NM_000526.5:c.92delMANE SELECT
  • NP_000517.3:p.Ile31fs
  • NC_000017.10:g.39742995del
  • NM_000526.4:c.92delT
  • NM_000526.5:c.92delTMANE SELECT
Protein change:
I31fs
Links:
OMIM: 148066.0014; dbSNP: rs60231560
NCBI 1000 Genomes Browser:
rs60231560
Molecular consequence:
  • NM_000526.5:c.92del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Sjögren-Larsson syndrome (SLS)
Synonyms:
FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; FADH deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010031; MedGen: C0037231; Orphanet: 816; OMIM: 270200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001479917University 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 providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics., Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W.

Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778.

PubMed [citation]
PMID:
29130490
PMCID:
PMC6094939

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479917.1

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

Last Updated: Oct 9, 2021

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