ClinVar

NM_005006.7(NDUFS1):c.738-15G>A

Gene:

NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.3

Genomic location:

• Chr2: 206145041 (on Assembly GRCh38)
• Chr2: 207009765 (on Assembly GRCh37)

Preferred name:

NM_005006.7(NDUFS1):c.738-15G>A

HGVS:

• NC_000002.12:g.206145041C>T
• NG_009248.1:g.19423G>A
• NM_001199981.2:c.630-15G>A
• NM_001199982.2:c.405-15G>A
• NM_001199983.2:c.567-15G>A
• NM_001199984.2:c.780-15G>A
• NM_005006.7:c.738-15G>AMANE SELECT
• NC_000002.11:g.207009765C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs376871054

NCBI 1000 Genomes Browser:

rs376871054

Molecular consequence:

• NM_001199981.2:c.630-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199982.2:c.405-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199983.2:c.567-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199984.2:c.780-15G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005006.7:c.738-15G>A - intron variant - [Sequence Ontology: SO:0001627]