ClinVar

NM_000545.8(HNF1A):c.824A>T (p.Glu275Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120994274 (on Assembly GRCh38)
• Chr12: 121432077 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.824A>T (p.Glu275Val)

HGVS:

• NC_000012.12:g.120994274A>T
• NG_011731.2:g.20529A>T
• NM_000545.8:c.824A>TMANE SELECT
• NM_001306179.2:c.824A>T
• NP_000536.6:p.Glu275Val
• NP_001293108.2:p.Glu275Val
• LRG_522:g.20529A>T
• NC_000012.11:g.121432077A>T
• NM_000545.6:c.824A>T

This HGVS expression did not pass validation

Protein change:

E275V

Links:

dbSNP: rs199890776

NCBI 1000 Genomes Browser:

rs199890776

Molecular consequence:

• NM_000545.8:c.824A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306179.2:c.824A>T - missense variant - [Sequence Ontology: SO:0001583]