ClinVar

NM_001770.6(CD19):c.1169C>T (p.Ala390Val)

Gene:

CD19:CD19 molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 28937107 (on Assembly GRCh38)
• Chr16: 28948428 (on Assembly GRCh37)

Preferred name:

NM_001770.6(CD19):c.1169C>T (p.Ala390Val)

HGVS:

• NC_000016.10:g.28937107C>T
• NG_007275.1:g.10169C>T
• NM_001178098.2:c.1169C>T
• NM_001385732.1:c.902C>T
• NM_001770.6:c.1169C>TMANE SELECT
• NP_001171569.1:p.Ala390Val
• NP_001372661.1:p.Ala301Val
• NP_001761.3:p.Ala390Val
• LRG_35:g.10169C>T
• NC_000016.9:g.28948428C>T
• NR_169755.1:n.1511C>T

This HGVS expression did not pass validation

Protein change:

A301V

Links:

dbSNP: rs539190420

NCBI 1000 Genomes Browser:

rs539190420

Molecular consequence:

• NM_001178098.2:c.1169C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385732.1:c.902C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001770.6:c.1169C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_169755.1:n.1511C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1