ClinVar

NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)

Gene:

HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.1

Genomic location:

• Chr5: 119525228 (on Assembly GRCh38)
• Chr5: 118860923 (on Assembly GRCh37)

Preferred name:

NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)

HGVS:

• NC_000005.10:g.119525228C>T
• NG_008182.1:g.77776C>T
• NM_000414.4:c.1516C>TMANE SELECT
• NM_001199291.3:c.1591C>T
• NM_001199292.2:c.1462C>T
• NM_001292027.2:c.1444C>T
• NM_001292028.2:c.1096C>T
• NP_000405.1:p.Arg506Cys
• NP_001186220.1:p.Arg531Cys
• NP_001186221.1:p.Arg488Cys
• NP_001278956.1:p.Arg482Cys
• NP_001278957.1:p.Arg366Cys
• NC_000005.9:g.118860923C>T
• NM_000414.3:c.1516C>T

This HGVS expression did not pass validation

Protein change:

R366C

Links:

dbSNP: rs766199971

NCBI 1000 Genomes Browser:

rs766199971

Molecular consequence:

• NM_000414.4:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199291.3:c.1591C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199292.2:c.1462C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292027.2:c.1444C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292028.2:c.1096C>T - missense variant - [Sequence Ontology: SO:0001583]