ClinVar

NM_004544.4(NDUFA10):c.635C>T (p.Pro212Leu)

Gene:

NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 240014773 (on Assembly GRCh38)
• Chr2: 240954190 (on Assembly GRCh37)

Preferred name:

NM_004544.4(NDUFA10):c.635C>T (p.Pro212Leu)

HGVS:

• NC_000002.12:g.240014773G>A
• NG_031855.2:g.15630C>T
• NM_001322019.2:c.635C>T
• NM_001322020.2:c.635C>T
• NM_004544.4:c.635C>TMANE SELECT
• NP_001308948.1:p.Pro212Leu
• NP_001308949.1:p.Pro212Leu
• NP_004535.1:p.Pro212Leu
• NC_000002.11:g.240954190G>A
• NM_004544.3:c.635C>T
• NR_136155.2:n.676C>T
• NR_136156.2:n.676C>T
• NR_136157.2:n.507C>T
• NR_136158.2:n.676C>T

This HGVS expression did not pass validation

Protein change:

P212L

Links:

dbSNP: rs1553573220

NCBI 1000 Genomes Browser:

rs1553573220

Molecular consequence:

• NM_001322019.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322020.2:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004544.4:c.635C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136155.2:n.676C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136156.2:n.676C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136157.2:n.507C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136158.2:n.676C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]