ClinVar

NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)

Genes:

LOC111188154:RORalpha allelically-responsive CSF1R enhancer [Gene]
CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150078137 (on Assembly GRCh38)
• Chr5: 149457700 (on Assembly GRCh37)

Preferred name:

NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)

HGVS:

• NC_000005.10:g.150078137A>C
• NG_012303.2:g.40236T>G
• NG_055557.1:g.243A>C
• NM_001288705.3:c.704T>GMANE SELECT
• NM_001349736.2:c.704T>G
• NM_001375320.1:c.704T>G
• NM_001375321.1:c.260T>G
• NM_005211.3:c.704T>G
• NM_005211.4:c.704T>G
• NP_001275634.1:p.Val235Gly
• NP_001336665.1:p.Val235Gly
• NP_001362249.1:p.Val235Gly
• NP_001362250.1:p.Val87Gly
• NP_005202.2:p.Val235Gly
• NC_000005.9:g.149457700A>C
• NR_109969.2:n.831T>G
• NR_164679.1:n.760T>G

This HGVS expression did not pass validation

Protein change:

V235G

Links:

dbSNP: rs1465872803

NCBI 1000 Genomes Browser:

rs1465872803

Molecular consequence:

• NM_001288705.3:c.704T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349736.2:c.704T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375320.1:c.704T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375321.1:c.260T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005211.4:c.704T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_109969.2:n.831T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164679.1:n.760T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1