ClinVar

NM_175914.5(HNF4A):c.426+105G>C

Gene:

HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44413905 (on Assembly GRCh38)
• Chr20: 43042545 (on Assembly GRCh37)

Preferred name:

NM_175914.5(HNF4A):c.426+105G>C

HGVS:

• NC_000020.11:g.44413905G>C
• NG_009818.1:g.63105G>C
• NM_000457.6:c.492+105G>C
• NM_001030003.3:c.426+105G>C
• NM_001030004.3:c.426+105G>C
• NM_001258355.2:c.471+105G>C
• NM_001287182.2:c.417+105G>C
• NM_001287183.2:c.417+105G>C
• NM_001287184.2:c.417+105G>C
• NM_175914.5:c.426+105G>CMANE SELECT
• NM_178849.3:c.492+105G>C
• NM_178850.3:c.492+105G>C
• LRG_483:g.63105G>C
• NC_000020.10:g.43042545G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs111805863

NCBI 1000 Genomes Browser:

rs111805863

Molecular consequence:

• NM_000457.6:c.492+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030003.3:c.426+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001030004.3:c.426+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258355.2:c.471+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287182.2:c.417+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287183.2:c.417+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287184.2:c.417+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_175914.5:c.426+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_178849.3:c.492+105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_178850.3:c.492+105G>C - intron variant - [Sequence Ontology: SO:0001627]