ClinVar

NM_020632.3(ATP6V0A4):c.*111C>A

Gene:

ATP6V0A4:ATPase H+ transporting V0 subunit a4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 138706513 (on Assembly GRCh38)
• Chr7: 138391258 (on Assembly GRCh37)

Preferred name:

NM_020632.3(ATP6V0A4):c.*111C>A

HGVS:

• NC_000007.14:g.138706513G>T
• NG_008145.1:g.96684C>A
• NG_051552.1:g.35C>A
• NM_020632.3:c.*111C>AMANE SELECT
• NM_130840.3:c.*111C>A
• NM_130841.3:c.*111C>A
• LRG_1175t1:c.*111C>A
• LRG_1103:g.35C>A
• LRG_1175:g.96684C>A
• NC_000007.13:g.138391258G>T
• NM_020632.2:c.*111C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs75920897

NCBI 1000 Genomes Browser:

rs75920897

Molecular consequence:

• NM_020632.3:c.*111C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_130840.3:c.*111C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_130841.3:c.*111C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]