ClinVar

NM_000458.4(HNF1B):c.1654-22=

Gene:

HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 37687414 (on Assembly GRCh38)
• Chr17: 36047417 (on Assembly GRCh37)

Preferred name:

NM_000458.4(HNF1B):c.1654-22=

HGVS:

• NC_000017.11:g.37687414=
• NG_013019.2:g.62693=
• NM_000458.4:c.1654-22=MANE SELECT
• NM_001165923.4:c.1576-22=
• NM_001304286.2:c.1262-22=
• NC_000017.10:g.36047417A>G
• NM_000458.2:c.1654-22T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs3110641

NCBI 1000 Genomes Browser:

rs3110641

Molecular consequence:

• NM_000458.4:c.1654-22= - intron variant - [Sequence Ontology: SO:0001627]
• NM_001165923.4:c.1576-22= - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304286.2:c.1262-22= - intron variant - [Sequence Ontology: SO:0001627]