ClinVar

NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)

Genes:

LOC126861242:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:67379204-67380403 [Gene]
NDUFV1:NADH:ubiquinone oxidoreductase core subunit V1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67612441 (on Assembly GRCh38)
• Chr11: 67379912 (on Assembly GRCh37)

Preferred name:

NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp)

HGVS:

• NC_000011.10:g.67612441C>T
• NG_013353.1:g.10590C>T
• NM_001166102.2:c.1351C>T
• NM_007103.4:c.1378C>TMANE SELECT
• NP_001159574.1:p.Arg451Trp
• NP_009034.2:p.Arg460Trp
• NC_000011.9:g.67379912C>T
• NM_007103.3:c.1378C>T

This HGVS expression did not pass validation

Protein change:

R451W

Links:

dbSNP: rs372047256

NCBI 1000 Genomes Browser:

rs372047256

Molecular consequence:

• NM_001166102.2:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007103.4:c.1378C>T - missense variant - [Sequence Ontology: SO:0001583]