ClinVar

NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)

Gene:

KRT13:keratin 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41505219 (on Assembly GRCh38)
• Chr17: 39661471 (on Assembly GRCh37)

Preferred name:

NM_153490.3(KRT13):c.332T>C (p.Leu111Pro)

HGVS:

• NC_000017.11:g.41505219A>G
• NG_008406.1:g.5395T>C
• NM_002274.4:c.332T>C
• NM_153490.3:c.332T>CMANE SELECT
• NP_002265.3:p.Leu111Pro
• NP_705694.3:p.Leu111Pro
• NC_000017.10:g.39661471A>G
• NM_153490.2:c.332T>C
• P13646:p.Leu111Pro

This HGVS expression did not pass validation

Protein change:

L111P; LEU111PRO

Links:

UniProtKB: P13646#VAR_023924; OMIM: 148065.0002; dbSNP: rs59897026

NCBI 1000 Genomes Browser:

rs59897026

Molecular consequence:

• NM_002274.4:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153490.3:c.332T>C - missense variant - [Sequence Ontology: SO:0001583]