ClinVar

NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr)

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: 150078183 (on Assembly GRCh38)
• Chr5: 149457746 (on Assembly GRCh37)

Preferred name:

NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr)

HGVS:

• NC_000005.10:g.150078183C>T
• NG_012303.2:g.40190G>A
• NG_055557.1:g.289C>T
• NM_001288705.3:c.658G>AMANE SELECT
• NM_001349736.2:c.658G>A
• NM_001375320.1:c.658G>A
• NM_001375321.1:c.214G>A
• NM_005211.4:c.658G>A
• NP_001275634.1:p.Ala220Thr
• NP_001336665.1:p.Ala220Thr
• NP_001362249.1:p.Ala220Thr
• NP_001362250.1:p.Ala72Thr
• NP_005202.2:p.Ala220Thr
• NC_000005.9:g.149457746C>T
• NR_109969.2:n.785G>A
• NR_164679.1:n.714G>A

This HGVS expression did not pass validation

Protein change:

A220T

Links:

dbSNP: rs757109045

NCBI 1000 Genomes Browser:

rs757109045

Molecular consequence:

• NM_001288705.3:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349736.2:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375320.1:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375321.1:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005211.4:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_109969.2:n.785G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164679.1:n.714G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1