ClinVar

NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.1

Genomic location:

• Chr5: 119499498 (on Assembly GRCh38)
• Chr5: 118835193 (on Assembly GRCh37)

Preferred name:

NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr)

HGVS:

• NC_000005.10:g.119499498C>A
• NG_008182.1:g.52046C>A
• NM_000414.4:c.1154C>AMANE SELECT
• NM_001199291.3:c.1229C>A
• NM_001199292.2:c.1100C>A
• NM_001292027.2:c.1082C>A
• NM_001292028.2:c.734C>A
• NP_000405.1:p.Ser385Tyr
• NP_001186220.1:p.Ser410Tyr
• NP_001186221.1:p.Ser367Tyr
• NP_001278956.1:p.Ser361Tyr
• NP_001278957.1:p.Ser245Tyr
• NC_000005.9:g.118835193C>A

This HGVS expression did not pass validation

Protein change:

S245Y

Links:

dbSNP: rs1368714235

NCBI 1000 Genomes Browser:

rs1368714235

Molecular consequence:

• NM_000414.4:c.1154C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199291.3:c.1229C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199292.2:c.1100C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292027.2:c.1082C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292028.2:c.734C>A - missense variant - [Sequence Ontology: SO:0001583]