ClinVar

NM_001382289.1(FSHB):c.228C>T (p.Tyr76=)

Genes:

ARL14EP-DT:ARL14EP divergent transcript [Gene - HGNC]
FSHB:follicle stimulating hormone subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.1

Genomic location:

• Chr11: 30233638 (on Assembly GRCh38)
• Chr11: 30255185 (on Assembly GRCh37)

Preferred name:

NM_001382289.1(FSHB):c.228C>T (p.Tyr76=)

HGVS:

• NC_000011.10:g.30233638C>T
• NG_008144.1:g.7623C>T
• NM_000510.4:c.228C>T
• NM_001018080.3:c.228C>T
• NM_001382289.1:c.228C>TMANE SELECT
• NP_000501.1:p.Tyr76=
• NP_000501.1:p.Tyr76=
• NP_001018090.1:p.Tyr76=
• NP_001369218.1:p.Tyr76=
• NC_000011.9:g.30255185C>T
• NM_000510.2:c.228C>T
• NM_000510.3:c.228C>T
• NM_001018080.1:c.228C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs6169

NCBI 1000 Genomes Browser:

rs6169

Molecular consequence:

• NM_000510.4:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001018080.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382289.1:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]