ClinVar

NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120993613 (on Assembly GRCh38)
• Chr12: 121431416 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)

Other names:

NM_000545.8(HNF1A):c.620G>A; p.Gly207Asp

HGVS:

• NC_000012.12:g.120993613G>A
• NG_011731.2:g.19868G>A
• NM_000545.6:c.620G>A
• NM_000545.8:c.620G>AMANE SELECT
• NM_001306179.2:c.620G>A
• NP_000536.6:p.Gly207Asp
• NP_001293108.2:p.Gly207Asp
• LRG_522t1:c.620G>A
• LRG_522:g.19868G>A
• NC_000012.11:g.121431416G>A
• NM_000545.5:c.620G>A
• p.GLY207ASP

This HGVS expression did not pass validation

Protein change:

G207D

Links:

dbSNP: rs1555211922

NCBI 1000 Genomes Browser:

rs1555211922

Molecular consequence:

• NM_000545.8:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306179.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]