ClinVar

NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q23.1

Genomic location:

• Chr5: 119506867 (on Assembly GRCh38)
• Chr5: 118842562 (on Assembly GRCh37)

Preferred name:

NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)

HGVS:

• NC_000005.10:g.119506867C>T
• NG_008182.1:g.59415C>T
• NM_000414.4:c.1311C>TMANE SELECT
• NM_001199291.3:c.1386C>T
• NM_001199292.2:c.1257C>T
• NM_001292027.2:c.1239C>T
• NM_001292028.2:c.891C>T
• NP_000405.1:p.Ser437=
• NP_001186220.1:p.Ser462=
• NP_001186221.1:p.Ser419=
• NP_001278956.1:p.Ser413=
• NP_001278957.1:p.Ser297=
• NC_000005.9:g.118842562C>T
• NM_000414.3:c.1311C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs369449821

NCBI 1000 Genomes Browser:

rs369449821

Molecular consequence:

• NM_000414.4:c.1311C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199291.3:c.1386C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199292.2:c.1257C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001292027.2:c.1239C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001292028.2:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]