ClinVar

NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44406195 (on Assembly GRCh38)
• Chr20: 43034835 (on Assembly GRCh37)

Preferred name:

NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)

Other names:

R76W; NM_175914.5(HNF4A):c.187C>T; p.Arg63Trp

HGVS:

• NC_000020.11:g.44406195C>T
• NG_009818.1:g.55395C>T
• NM_000457.6:c.253C>T
• NM_001030003.3:c.187C>T
• NM_001030004.3:c.187C>T
• NM_001258355.2:c.232C>T
• NM_001287182.2:c.178C>T
• NM_001287183.2:c.178C>T
• NM_001287184.2:c.178C>T
• NM_175914.5:c.187C>TMANE SELECT
• NM_178849.3:c.253C>T
• NM_178850.3:c.253C>T
• NP_000448.3:p.Arg85Trp
• NP_000448.3:p.Arg85Trp
• NP_001025174.1:p.Arg63Trp
• NP_001025175.1:p.Arg63Trp
• NP_001245284.1:p.Arg78Trp
• NP_001274111.1:p.Arg60Trp
• NP_001274112.1:p.Arg60Trp
• NP_001274113.1:p.Arg60Trp
• NP_787110.2:p.Arg63Trp
• NP_787110.2:p.Arg63Trp
• NP_849180.1:p.Arg85Trp
• NP_849181.1:p.Arg85Trp
• LRG_483t1:c.187C>T
• LRG_483t2:c.253C>T
• LRG_483:g.55395C>T
• LRG_483p1:p.Arg63Trp
• LRG_483p2:p.Arg85Trp
• NC_000020.10:g.43034835C>T
• NM_000457.4:c.253C>T
• NM_000457.5:c.253C>T
• NM_175914.3:c.187C>T
• NM_175914.4:c.187C>T
• P41235:p.Arg85Trp

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMeds 22802087 and 24285859 to determine the location of this allele on the current reference sequence. The Arg76Trp codon numbering is based on NP_000448.1, which uses an ATG initiation codon that is 9-AAs downstream of that specified for NP_000448.3, for which the numbering would be Arg85Trp.

Protein change:

R60W; ARG76TRP

Links:

UniProtKB: P41235#VAR_071951; OMIM: 600281.0008; dbSNP: rs587777732

NCBI 1000 Genomes Browser:

rs587777732

Molecular consequence:

• NM_000457.6:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030003.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001030004.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258355.2:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287182.2:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287183.2:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287184.2:c.178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_175914.5:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178849.3:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178850.3:c.253C>T - missense variant - [Sequence Ontology: SO:0001583]