ClinVar

NM_005211.3(CSF1R):c.2467C>T

Gene:

CSF1R:colony stimulating factor 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150056112 (on Assembly GRCh38)
• Chr5: 149435675 (on Assembly GRCh37)

Preferred name:

NM_005211.3(CSF1R):c.2467C>T

HGVS:

• NC_000005.10:g.150056112G>A
• NG_012303.2:g.62261C>T
• NM_001288705.3:c.2468C>TMANE SELECT
• NM_001349736.2:c.2468C>T
• NM_001375320.1:c.2468C>T
• NM_001375321.1:c.2024C>T
• NM_005211.4:c.2468C>T
• NP_001275634.1:p.Ala823Val
• NP_001336665.1:p.Ala823Val
• NP_001362249.1:p.Ala823Val
• NP_001362250.1:p.Ala675Val
• NP_005202.2:p.Ala823Val
• NP_005202.2:p.Ala823Val
• NC_000005.9:g.149435675G>A
• NM_005211.3:c.2468C>T
• NR_109969.2:n.2432C>T
• NR_164679.1:n.2361C>T

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 24094860 to determine the location of this allele on current reference sequence.

Protein change:

A675V

Links:

dbSNP: rs690016562

NCBI 1000 Genomes Browser:

rs690016562

Molecular consequence:

• NM_001288705.3:c.2468C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349736.2:c.2468C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375320.1:c.2468C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375321.1:c.2024C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005211.4:c.2468C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_109969.2:n.2432C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_164679.1:n.2361C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]