ClinVar

NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)

Gene:

KRT17:keratin 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41620728 (on Assembly GRCh38)
• Chr17: 39776980 (on Assembly GRCh37)

Preferred name:

NM_000422.3(KRT17):c.1112T>C (p.Leu371Pro)

HGVS:

• NC_000017.11:g.41620728A>G
• NG_008625.1:g.8903T>C
• NG_009090.2:g.170985T>C
• NM_000422.3:c.1112T>CMANE SELECT
• NP_000413.1:p.Leu371Pro
• LRG_1345t1:c.1112T>C
• LRG_1345:g.8903T>C
• LRG_1345p1:p.Leu371Pro
• LRG_401:g.170985T>C
• NC_000017.10:g.39776980A>G
• NM_000422.2:c.1112T>C

This HGVS expression did not pass validation

Protein change:

L371P

Links:

dbSNP: rs267607413

NCBI 1000 Genomes Browser:

rs267607413

Molecular consequence:

• NM_000422.3:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]