ClinVar

NM_000526.5(KRT14):c.374G>C (p.Arg125Pro)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41586461 (on Assembly GRCh38)
• Chr17: 39742713 (on Assembly GRCh37)

Preferred name:

NM_000526.5(KRT14):c.374G>C (p.Arg125Pro)

HGVS:

• NC_000017.11:g.41586461C>G
• NG_008624.1:g.5435G>C
• NM_000526.5:c.374G>CMANE SELECT
• NP_000517.3:p.Arg125Pro
• NC_000017.10:g.39742713C>G
• NM_000526.4:c.374G>C

This HGVS expression did not pass validation

Protein change:

R125P

Links:

dbSNP: rs58330629

NCBI 1000 Genomes Browser:

rs58330629

Molecular consequence:

• NM_000526.5:c.374G>C - missense variant - [Sequence Ontology: SO:0001583]