ClinVar

NM_006019.4(TCIRG1):c.1516G>A (p.Gly506Ser)

Gene:

TCIRG1:T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 68047934 (on Assembly GRCh38)
• Chr11: 67815401 (on Assembly GRCh37)

Preferred name:

NM_006019.4(TCIRG1):c.1516G>A (p.Gly506Ser)

HGVS:

• NC_000011.10:g.68047934G>A
• NG_007878.1:g.13919G>A
• NM_001351059.2:c.622G>A
• NM_006019.3:c.1516G>A
• NM_006019.4:c.1516G>AMANE SELECT
• NM_006053.4:c.868G>A
• NP_001337988.1:p.Gly208Ser
• NP_006010.2:p.Gly506Ser
• NP_006044.1:p.Gly290Ser
• LRG_115:g.13919G>A
• NC_000011.9:g.67815401G>A

This HGVS expression did not pass validation

Protein change:

G208S

Links:

dbSNP: rs747692743

NCBI 1000 Genomes Browser:

rs747692743

Molecular consequence:

• NM_001351059.2:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006019.4:c.1516G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006053.4:c.868G>A - missense variant - [Sequence Ontology: SO:0001583]