ClinVar

NM_033285.4(TP53INP1):c.631C>T (p.Arg211Cys)

Genes:

NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]
TP53INP1:tumor protein p53 inducible nuclear protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

• Chr8: 94930571 (on Assembly GRCh38)
• Chr8: 95942799 (on Assembly GRCh37)

Preferred name:

NM_033285.4(TP53INP1):c.631C>T (p.Arg211Cys)

HGVS:

• NC_000008.11:g.94930571G>A
• NG_016647.2:g.40301G>A
• NM_001135733.2:c.*174C>T
• NM_001354514.2:c.-485-27424G>A
• NM_001354515.2:c.-268-27424G>A
• NM_001354516.2:c.-263-27424G>A
• NM_001354522.2:c.-687-27424G>A
• NM_001354524.2:c.-760-27424G>A
• NM_001354525.2:c.-804-27424G>A
• NM_001354534.2:c.-321-27424G>A
• NM_033285.4:c.631C>TMANE SELECT
• NP_150601.1:p.Arg211Cys
• NC_000008.10:g.95942799G>A
• NM_033285.3:c.631C>T

This HGVS expression did not pass validation

Protein change:

R211C

Molecular consequence:

• NM_001135733.2:c.*174C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001354514.2:c.-485-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354515.2:c.-268-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354516.2:c.-263-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354522.2:c.-687-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354524.2:c.-760-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354525.2:c.-804-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354534.2:c.-321-27424G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033285.4:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]