ClinVar

NM_000526.5(KRT14):c.398T>C (p.Val133Ala)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41586437 (on Assembly GRCh38)
• Chr17: 39742689 (on Assembly GRCh37)

Preferred name:

NM_000526.5(KRT14):c.398T>C (p.Val133Ala)

HGVS:

• NC_000017.11:g.41586437A>G
• NG_008624.1:g.5459T>C
• NM_000526.5:c.398T>CMANE SELECT
• NP_000517.3:p.Val133Ala
• NC_000017.10:g.39742689A>G
• NM_000526.4:c.398T>C
• P02533:p.Val133Ala

This HGVS expression did not pass validation

Protein change:

V133A

Links:

UniProtKB: P02533#VAR_033496; dbSNP: rs1555603282

NCBI 1000 Genomes Browser:

rs1555603282

Molecular consequence:

• NM_000526.5:c.398T>C - missense variant - [Sequence Ontology: SO:0001583]