ClinVar

NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120989029 (on Assembly GRCh38)
• Chr12: 121426832 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)

HGVS:

• NC_000012.12:g.120989029C>T
• NG_011731.2:g.15284C>T
• NM_000545.8:c.523C>TMANE SELECT
• NM_001306179.2:c.523C>T
• NM_001406915.1:c.523C>T
• NP_000536.5:p.Gln175Ter
• NP_000536.6:p.Gln175Ter
• NP_001293108.2:p.Gln175Ter
• NP_001393844.1:p.Gln175Ter
• LRG_522t1:c.523C>T
• LRG_522:g.15284C>T
• LRG_522p1:p.Gln175Ter
• NC_000012.11:g.121426832C>T
• NM_000545.5:c.523C>T

This HGVS expression did not pass validation

Protein change:

Q175*

Molecular consequence:

• NM_000545.8:c.523C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001306179.2:c.523C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406915.1:c.523C>T - nonsense - [Sequence Ontology: SO:0001587]