ClinVar

NM_003874.4(CD84):c.925G>A (p.Gly309Arg)

Genes:

LOC129931706:ATAC-STARR-seq lymphoblastoid active region 1931 [Gene]
CD84:CD84 molecule [Gene - OMIM - HGNC]
LOC105371468:uncharacterized LOC105371468 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 160548318 (on Assembly GRCh38)
• Chr1: 160518108 (on Assembly GRCh37)

Preferred name:

NM_003874.4(CD84):c.925G>A (p.Gly309Arg)

HGVS:

• NC_000001.11:g.160548318C>T
• NG_164749.1:g.148C>T
• NM_001184879.2:c.976G>A
• NM_001184881.2:c.*8G>A
• NM_001184882.2:c.583G>A
• NM_001330742.2:c.958G>A
• NM_003874.4:c.925G>AMANE SELECT
• NP_001171808.1:p.Gly326Arg
• NP_001171811.1:p.Gly195Arg
• NP_001317671.1:p.Gly320Arg
• NP_003865.1:p.Gly309Arg
• NC_000001.10:g.160518108C>T
• NM_001184879.1:c.976G>A

This HGVS expression did not pass validation

Protein change:

G195R

Molecular consequence:

• NM_001184881.2:c.*8G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001184879.2:c.976G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184882.2:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330742.2:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003874.4:c.925G>A - missense variant - [Sequence Ontology: SO:0001583]