ClinVar

NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120994321 (on Assembly GRCh38)
• Chr12: 121432124 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)

Other names:

NM_000545.6(HNF1A):c.871C>T; p.Pro291Ser

HGVS:

• NC_000012.12:g.120994321C>T
• NG_011731.2:g.20576C>T
• NM_000545.6:c.871C>T
• NM_000545.8:c.871C>TMANE SELECT
• NM_001306179.2:c.871C>T
• NP_000536.6:p.Pro291Ser
• NP_001293108.2:p.Pro291Ser
• LRG_522t1:c.871C>T
• LRG_522:g.20576C>T
• NC_000012.11:g.121432124C>T
• NM_000545.5:c.871C>T
• p.PRO291SER

This HGVS expression did not pass validation

Protein change:

P291S

Links:

dbSNP: rs151256267

NCBI 1000 Genomes Browser:

rs151256267

Molecular consequence:

• NM_000545.8:c.871C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001306179.2:c.871C>T - missense variant - [Sequence Ontology: SO:0001583]