ClinVar

NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)

Gene:

KRT17:keratin 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41624218 (on Assembly GRCh38)
• Chr17: 39780470 (on Assembly GRCh37)

Preferred name:

NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp)

HGVS:

• NC_000017.11:g.41624218A>C
• NG_008625.1:g.5413T>G
• NG_009090.2:g.167495T>G
• NM_000422.3:c.292T>GMANE SELECT
• NP_000413.1:p.Tyr98Asp
• LRG_1345t1:c.292T>G
• LRG_1345:g.5413T>G
• LRG_1345p1:p.Tyr98Asp
• LRG_401:g.167495T>G
• NC_000017.10:g.39780470A>C
• NM_000422.2:c.292T>G
• Q04695:p.Tyr98Asp

This HGVS expression did not pass validation

Protein change:

Y98D; TYR98ASP

Links:

UniProtKB: Q04695#VAR_003851; OMIM: 148069.0003; dbSNP: rs28933088

NCBI 1000 Genomes Browser:

rs28933088

Molecular consequence:

• NM_000422.3:c.292T>G - missense variant - [Sequence Ontology: SO:0001583]