ClinVar

NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)

Gene:

ATP6V0A1:ATPase H+ transporting V0 subunit a1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42495059 (on Assembly GRCh38)
• Chr17: 40647077 (on Assembly GRCh37)

Preferred name:

NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln)

HGVS:

• NC_000017.11:g.42495059G>A
• NG_047037.1:g.41216G>A
• NM_001130020.3:c.1361G>A
• NM_001130021.3:c.1340G>AMANE SELECT
• NM_001378522.1:c.1361G>A
• NM_001378523.1:c.1361G>A
• NM_001378530.1:c.1463G>A
• NM_001378531.1:c.1484G>A
• NM_001378532.1:c.1484G>A
• NM_001378533.1:c.1463G>A
• NM_001378534.1:c.1361G>A
• NM_001378535.1:c.1340G>A
• NM_001378536.1:c.1232G>A
• NM_001378537.1:c.1340G>A
• NM_001378538.1:c.1211G>A
• NM_001378539.1:c.1361G>A
• NM_001378540.1:c.1211G>A
• NM_001378541.1:c.1361G>A
• NM_001378542.1:c.1340G>A
• NM_001378543.1:c.1181G>A
• NM_001378544.1:c.1340G>A
• NM_001378545.1:c.1130G>A
• NM_001378546.1:c.1127G>A
• NM_001378547.1:c.1127G>A
• NM_001378548.1:c.1314+586G>A
• NM_001378549.1:c.1160G>A
• NM_001378550.1:c.1232G>A
• NM_001378551.1:c.1463G>A
• NM_001378552.1:c.1463G>A
• NM_001378554.1:c.1130G>A
• NM_001378556.1:c.1232G>A
• NM_001378557.1:c.1340G>A
• NM_005177.5:c.1340G>A
• NP_001123492.1:p.Arg454Gln
• NP_001123493.1:p.Arg447Gln
• NP_001365451.1:p.Arg454Gln
• NP_001365452.1:p.Arg454Gln
• NP_001365459.1:p.Arg488Gln
• NP_001365460.1:p.Arg495Gln
• NP_001365461.1:p.Arg495Gln
• NP_001365462.1:p.Arg488Gln
• NP_001365463.1:p.Arg454Gln
• NP_001365464.1:p.Arg447Gln
• NP_001365465.1:p.Arg411Gln
• NP_001365466.1:p.Arg447Gln
• NP_001365467.1:p.Arg404Gln
• NP_001365468.1:p.Arg454Gln
• NP_001365469.1:p.Arg404Gln
• NP_001365470.1:p.Arg454Gln
• NP_001365471.1:p.Arg447Gln
• NP_001365472.1:p.Arg394Gln
• NP_001365473.1:p.Arg447Gln
• NP_001365474.1:p.Arg377Gln
• NP_001365475.1:p.Arg376Gln
• NP_001365476.1:p.Arg376Gln
• NP_001365478.1:p.Arg387Gln
• NP_001365479.1:p.Arg411Gln
• NP_001365480.1:p.Arg488Gln
• NP_001365481.1:p.Arg488Gln
• NP_001365483.1:p.Arg377Gln
• NP_001365485.1:p.Arg411Gln
• NP_001365486.1:p.Arg447Gln
• NP_005168.2:p.Arg447Gln
• NC_000017.10:g.40647077G>A
• NM_001130020.1:c.1361G>A

This HGVS expression did not pass validation

Protein change:

R376Q

Links:

dbSNP: rs1204448380

NCBI 1000 Genomes Browser:

rs1204448380

Molecular consequence:

• NM_001378548.1:c.1314+586G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130020.3:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130021.3:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378522.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378523.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378530.1:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378531.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378532.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378533.1:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378534.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378535.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378536.1:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378537.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378538.1:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378539.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378540.1:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378541.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378542.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378543.1:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378544.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378545.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378546.1:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378547.1:c.1127G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378549.1:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378550.1:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378551.1:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378552.1:c.1463G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378554.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378556.1:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378557.1:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005177.5:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]