ClinVar

NM_020632.3(ATP6V0A4):c.1908+142T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 138732735 (on Assembly GRCh38)
• Chr7: 138417480 (on Assembly GRCh37)

Preferred name:

NM_020632.3(ATP6V0A4):c.1908+142T>C

HGVS:

• NC_000007.14:g.138732735A>G
• NG_008145.1:g.70462T>C
• NM_020632.3:c.1908+142T>CMANE SELECT
• NM_130840.3:c.1908+142T>C
• NM_130841.3:c.1908+142T>C
• LRG_1175t1:c.1908+142T>C
• LRG_1175:g.70462T>C
• NC_000007.13:g.138417480A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs10247054

NCBI 1000 Genomes Browser:

rs10247054

Molecular consequence:

• NM_020632.3:c.1908+142T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_130840.3:c.1908+142T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_130841.3:c.1908+142T>C - intron variant - [Sequence Ontology: SO:0001627]