ClinVar

NM_000545.8(HNF1A):c.1341G>A (p.Pro447=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120997505 (on Assembly GRCh38)
• Chr12: 121435308 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.1341G>A (p.Pro447=)

HGVS:

• NC_000012.12:g.120997505G>A
• NG_011731.2:g.23760G>A
• NM_000545.8:c.1341G>AMANE SELECT
• NM_001306179.2:c.1341G>A
• NM_001406915.1:c.1309+763G>A
• NP_000536.5:p.Pro447=
• NP_000536.6:p.Pro447=
• NP_001293108.2:p.Pro447=
• LRG_522t1:c.1341G>A
• LRG_522:g.23760G>A
• LRG_522p1:p.Pro447=
• NC_000012.11:g.121435308G>A
• NM_000545.5:c.1341G>A
• NM_000545.6:c.1341G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001406915.1:c.1309+763G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000545.8:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001306179.2:c.1341G>A - synonymous variant - [Sequence Ontology: SO:0001819]