ClinVar

NM_004046.6(ATP5F1A):c.1176+81A>G

Gene:

ATP5F1A:ATP synthase F1 subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.1

Genomic location:

• Chr18: 46086927 (on Assembly GRCh38)
• Chr18: 43666893 (on Assembly GRCh37)

Preferred name:

NM_004046.6(ATP5F1A):c.1176+81A>G

HGVS:

• NC_000018.10:g.46086927T>C
• NG_041769.2:g.27307A>G
• NM_001001935.3:c.1026+81A>G
• NM_001001937.2:c.1176+81A>G
• NM_001257334.2:c.1110+81A>G
• NM_001257335.2:c.1026+81A>G
• NM_004046.6:c.1176+81A>GMANE SELECT
• NC_000018.9:g.43666893T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs116569703

NCBI 1000 Genomes Browser:

rs116569703

Molecular consequence:

• NM_001001935.3:c.1026+81A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001001937.2:c.1176+81A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257334.2:c.1110+81A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257335.2:c.1026+81A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_004046.6:c.1176+81A>G - intron variant - [Sequence Ontology: SO:0001627]