ClinVar

NM_024407.5(NDUFS7):c.348G>A (p.Gln116=)

Gene:

NDUFS7:NADH:ubiquinone oxidoreductase core subunit S7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1390990 (on Assembly GRCh38)
• Chr19: 1390989 (on Assembly GRCh37)

Preferred name:

NM_024407.5(NDUFS7):c.348G>A (p.Gln116=)

HGVS:

• NC_000019.10:g.1390990G>A
• NG_008283.1:g.12107G>A
• NM_001363602.2:c.348G>A
• NM_024407.5:c.348G>AMANE SELECT
• NP_001350531.1:p.Gln116=
• NP_077718.3:p.Gln116=
• NC_000019.9:g.1390989G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001363602.2:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024407.5:c.348G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1