ClinVar

NM_001377299.1(NDUFS2):c.628-11G>A

Gene:

NDUFS2:NADH:ubiquinone oxidoreductase core subunit S2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161209846 (on Assembly GRCh38)
• Chr1: 161179636 (on Assembly GRCh37)

Preferred name:

NM_001377299.1(NDUFS2):c.628-11G>A

HGVS:

• NC_000001.11:g.161209846G>A
• NG_013352.1:g.15532G>A
• NM_001166159.2:c.628-11G>A
• NM_001377298.1:c.628-11G>A
• NM_001377299.1:c.628-11G>AMANE SELECT
• NM_001377300.1:c.628-11G>A
• NM_001377301.1:c.628-11G>A
• NM_001377302.1:c.628-11G>A
• NM_004550.5:c.628-11G>A
• NC_000001.10:g.161179636G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs370433084

NCBI 1000 Genomes Browser:

rs370433084

Molecular consequence:

• NM_001166159.2:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377298.1:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377299.1:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377300.1:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377301.1:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377302.1:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004550.5:c.628-11G>A - intron variant - [Sequence Ontology: SO:0001627]