ClinVar

NM_001042450.4(SLC5A10):c.874C>T (p.Arg292Trp)

Genes:

FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 18976881 (on Assembly GRCh38)
• Chr17: 18880194 (on Assembly GRCh37)

Preferred name:

NM_001042450.4(SLC5A10):c.874C>T (p.Arg292Trp)

HGVS:

• NC_000017.11:g.18976881C>T
• NM_001039999.3:c.2082+703G>AMANE SELECT
• NM_001042450.4:c.874C>TMANE SELECT
• NM_001270648.3:c.793C>T
• NM_001270649.2:c.874C>T
• NM_001282417.1:c.625C>T
• NM_152351.6:c.874C>T
• NP_001035915.1:p.Arg292Trp
• NP_001257577.1:p.Arg265Trp
• NP_001257578.1:p.Arg292Trp
• NP_001269346.1:p.Arg209Trp
• NP_689564.3:p.Arg292Trp
• NC_000017.10:g.18880194C>T
• NM_152351.3:c.874C>T

This HGVS expression did not pass validation

Protein change:

R209W

Molecular consequence:

• NM_001039999.3:c.2082+703G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001042450.4:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270648.3:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270649.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282417.1:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152351.6:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]