ClinVar

NM_004230.4(S1PR2):c.943C>T (p.Arg315Trp)

Gene:

S1PR2:sphingosine-1-phosphate receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 10223963 (on Assembly GRCh38)
• Chr19: 10334639 (on Assembly GRCh37)

Preferred name:

NM_004230.4(S1PR2):c.943C>T (p.Arg315Trp)

HGVS:

• NC_000019.10:g.10223963G>A
• NG_028016.3:g.12324C>T
• NG_046802.1:g.12845C>T
• NM_004230.4:c.943C>TMANE SELECT
• NP_004221.3:p.Arg315Trp
• LRG_1356t1:c.943C>T
• LRG_1356:g.12845C>T
• LRG_1356p1:p.Arg315Trp
• LRG_362:g.12324C>T
• NC_000019.9:g.10334639G>A
• NM_004230.3:c.943C>T

This HGVS expression did not pass validation

Protein change:

R315W

Links:

dbSNP: rs762437563

NCBI 1000 Genomes Browser:

rs762437563

Molecular consequence:

• NM_004230.4:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]