ClinVar

NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)

Gene:

KRT17:keratin 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41624226 (on Assembly GRCh38)
• Chr17: 39780478 (on Assembly GRCh37)

Preferred name:

NM_000422.3(KRT17):c.284T>A (p.Leu95Gln)

HGVS:

• NC_000017.11:g.41624226A>T
• NG_008625.1:g.5405T>A
• NG_009090.2:g.167487T>A
• NM_000422.3:c.284T>AMANE SELECT
• NP_000413.1:p.Leu95Gln
• LRG_1345t1:c.284T>A
• LRG_1345:g.5405T>A
• LRG_1345p1:p.Leu95Gln
• LRG_401:g.167487T>A
• NC_000017.10:g.39780478A>T
• NM_000422.2:c.284T>A
• Q04695:p.Leu95Gln

This HGVS expression did not pass validation

Protein change:

L95Q; LEU95GLN

Links:

UniProtKB: Q04695#VAR_017070; OMIM: 148069.0010; dbSNP: rs28928899

NCBI 1000 Genomes Browser:

rs28928899

Molecular consequence:

• NM_000422.3:c.284T>A - missense variant - [Sequence Ontology: SO:0001583]