ClinVar

NM_001337.4(CX3CR1):c.485C>T (p.Ala162Val)

Gene:

CX3CR1:C-X3-C motif chemokine receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.2

Genomic location:

• Chr3: 39266025 (on Assembly GRCh38)
• Chr3: 39307516 (on Assembly GRCh37)

Preferred name:

NM_001337.4(CX3CR1):c.485C>T (p.Ala162Val)

HGVS:

• NC_000003.12:g.39266025G>A
• NG_016362.1:g.20711C>T
• NG_016362.2:g.31941C>T
• NM_001171171.2:c.485C>T
• NM_001171172.2:c.485C>T
• NM_001171174.1:c.581C>T
• NM_001337.4:c.485C>TMANE SELECT
• NP_001164642.1:p.Ala162Val
• NP_001164643.1:p.Ala162Val
• NP_001164645.1:p.Ala194Val
• NP_001328.1:p.Ala162Val
• NC_000003.11:g.39307516G>A
• NM_001337.3:c.485C>T

This HGVS expression did not pass validation

Protein change:

A162V

Molecular consequence:

• NM_001171171.2:c.485C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171172.2:c.485C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171174.1:c.581C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001337.4:c.485C>T - missense variant - [Sequence Ontology: SO:0001583]