ClinVar

NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)

Gene:

KRT12:keratin 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 40867132 (on Assembly GRCh38)
• Chr17: 39023384 (on Assembly GRCh37)

Preferred name:

NM_000223.4(KRT12):c.55C>T (p.Arg19Trp)

HGVS:

• NC_000017.11:g.40867132G>A
• NG_008077.1:g.5079C>T
• NM_000223.4:c.55C>TMANE SELECT
• NP_000214.1:p.Arg19Trp
• LRG_1343t1:c.55C>T
• LRG_1343:g.5079C>T
• LRG_1343p1:p.Arg19Trp
• NC_000017.10:g.39023384G>A
• NM_000223.3:c.55C>T

This HGVS expression did not pass validation

Protein change:

R19W

Links:

dbSNP: rs200258980

NCBI 1000 Genomes Browser:

rs200258980

Molecular consequence:

• NM_000223.4:c.55C>T - missense variant - [Sequence Ontology: SO:0001583]