ClinVar

NM_001689.5(ATP5MC3):c.348T>C (p.Tyr116=)

Gene:

ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 175178369 (on Assembly GRCh38)
• Chr2: 176043097 (on Assembly GRCh37)

Preferred name:

NM_001689.5(ATP5MC3):c.348T>C (p.Tyr116=)

HGVS:

• NC_000002.12:g.175178369A>G
• NM_001002258.5:c.348T>C
• NM_001190329.2:c.*684T>C
• NM_001689.5:c.348T>CMANE SELECT
• NP_001002258.1:p.Tyr116=
• NP_001680.1:p.Tyr116=
• NC_000002.11:g.176043097A>G
• NM_001689.4:c.348T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs8106

NCBI 1000 Genomes Browser:

rs8106

Molecular consequence:

• NM_001190329.2:c.*684T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001002258.5:c.348T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001689.5:c.348T>C - synonymous variant - [Sequence Ontology: SO:0001819]