U.S. flag

An official website of the United States government

NM_000422.3(KRT17):c.304G>A (p.Val102Met) AND Pachyonychia congenita 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV000015703.24

Allele description [Variation Report for NM_000422.3(KRT17):c.304G>A (p.Val102Met)]

NM_000422.3(KRT17):c.304G>A (p.Val102Met)

Gene:
KRT17:keratin 17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000422.3(KRT17):c.304G>A (p.Val102Met)
HGVS:
  • NC_000017.11:g.41624206C>T
  • NG_008625.1:g.5425G>A
  • NG_009090.2:g.167507G>A
  • NM_000422.3:c.304G>AMANE SELECT
  • NP_000413.1:p.Val102Met
  • LRG_1345t1:c.304G>A
  • LRG_1345:g.5425G>A
  • LRG_1345p1:p.Val102Met
  • LRG_401:g.167507G>A
  • NC_000017.10:g.39780458C>T
  • NM_000422.2:c.304G>A
  • Q04695:p.Val102Met
Protein change:
V102M; VAL102MET
Links:
UniProtKB: Q04695#VAR_017074; OMIM: 148069.0014; dbSNP: rs59977263
NCBI 1000 Genomes Browser:
rs59977263
Molecular consequence:
  • NM_000422.3:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pachyonychia congenita 2 (PC2)
Synonyms:
Pachyonychia congenita Jackson Lawler type; Jackson-Lawler syndrome; PC-K17
Identifiers:
MONDO: MONDO:0008174; MedGen: C1721007; Orphanet: 2309; OMIM: 167210

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035968OMIM
no assertion criteria provided
Pathogenic
(Mar 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

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

Hashiguchi T, Yotsumoto S, Shimada H, Terasaki K, Setoyama M, Kobayashi K, Saheki T, Kanzaki T.

J Invest Dermatol. 2002 Mar;118(3):545-7. No abstract available.

PubMed [citation]
PMID:
11874497

Details of each submission

From OMIM, SCV000035968.4

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

Description

In a 19-year-old Japanese man with pachyonychia congenita (PC2; 167210), Hashiguchi et al. (2002) identified heterozygosity for a de novo 452G-A (GTG to ATG) transition in the KRT17 gene, resulting in a val102-to-met (V102M) substitution within the highly conserved helix initiation motif 1A domain. The mutation was not found in 50 Japanese controls.

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

Last Updated: Jun 29, 2024