ClinVar

NM_000545.8(HNF1A):c.-89T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 120978680 (on Assembly GRCh38)
• Chr12: 121416483 (on Assembly GRCh37)

Preferred name:

NM_000545.8(HNF1A):c.-89T>C

HGVS:

• NC_000012.12:g.120978680T>C
• NG_011731.2:g.4935T>C
• NM_000545.6:c.-89T>C
• NM_000545.8:c.-89T>CMANE SELECT
• NM_001306179.2:c.-89T>C
• LRG_522t1:c.-89T>C
• LRG_522:g.4935T>C
• NC_000012.11:g.121416483T>C
• NM_000545.5:c.-89T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs767550584

NCBI 1000 Genomes Browser:

rs767550584

Molecular consequence:

• NM_000545.8:c.-89T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001306179.2:c.-89T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]