ClinVar

NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44413777 (on Assembly GRCh38)
• Chr20: 43042417 (on Assembly GRCh37)

Preferred name:

NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)

Other names:

NM_175914.5(HNF4A):c.403C>T; p.Gln135Ter

HGVS:

• NC_000020.11:g.44413777C>T
• NG_009818.1:g.62977C>T
• NM_000457.6:c.469C>T
• NM_001030003.3:c.403C>T
• NM_001030004.3:c.403C>T
• NM_001258355.2:c.448C>T
• NM_001287182.2:c.394C>T
• NM_001287183.2:c.394C>T
• NM_001287184.2:c.394C>T
• NM_175914.5:c.403C>TMANE SELECT
• NM_178849.3:c.469C>T
• NM_178850.3:c.469C>T
• NP_000448.3:p.Gln157Ter
• NP_001025174.1:p.Gln135Ter
• NP_001025175.1:p.Gln135Ter
• NP_001245284.1:p.Gln150Ter
• NP_001274111.1:p.Gln132Ter
• NP_001274112.1:p.Gln132Ter
• NP_001274113.1:p.Gln132Ter
• NP_787110.2:p.Gln135Ter
• NP_849180.1:p.Gln157Ter
• NP_849181.1:p.Gln157Ter
• LRG_483t1:c.403C>T
• LRG_483:g.62977C>T
• NC_000020.10:g.43042417C>T
• NM_175914.3:c.403C>T
• NM_175914.4:c.403C>T

This HGVS expression did not pass validation

Protein change:

Q132*

Links:

dbSNP: rs1555815158

NCBI 1000 Genomes Browser:

rs1555815158

Molecular consequence:

• NM_000457.6:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001030003.3:c.403C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001030004.3:c.403C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001258355.2:c.448C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287182.2:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287183.2:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287184.2:c.394C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_175914.5:c.403C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_178849.3:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_178850.3:c.469C>T - nonsense - [Sequence Ontology: SO:0001587]