ClinVar

NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln)

Gene:

HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120994267 (on Assembly GRCh38)
• Chr12: 121432070 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln)

Other names:

NM_000545.6(HNF1A):c.817A>C; p.Lys273Gln

HGVS:

• NC_000012.12:g.120994267A>C
• NG_011731.2:g.20522A>C
• NM_000545.8:c.817A>CMANE SELECT
• NM_001306179.2:c.817A>C
• NP_000536.6:p.Lys273Gln
• NP_001293108.2:p.Lys273Gln
• LRG_522t1:c.817A>C
• LRG_522:g.20522A>C
• NC_000012.11:g.121432070A>C
• NM_000545.5:c.817A>C
• p.LYS273GLN

This HGVS expression did not pass validation

Protein change:

K273Q

Links:

dbSNP: rs1555212016

NCBI 1000 Genomes Browser:

rs1555212016

Molecular consequence:

• NM_000545.8:c.817A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306179.2:c.817A>C - missense variant - [Sequence Ontology: SO:0001583]