ClinVar

NM_021930.6(RINT1):c.79G>T (p.Glu27Ter)

Gene:

RINT1:RAD50 interactor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 105532860 (on Assembly GRCh38)
• Chr7: 105173307 (on Assembly GRCh37)

Preferred name:

NM_021930.6(RINT1):c.79G>T (p.Glu27Ter)

HGVS:

• NC_000007.14:g.105532860G>T
• NG_051951.1:g.5780G>T
• NG_112118.1:g.564G>T
• NG_112118.2:g.589G>T
• NM_001346599.2:c.-19G>T
• NM_001346600.2:c.-941G>T
• NM_001346601.2:c.-844G>T
• NM_001346603.2:c.-464G>T
• NM_021930.6:c.79G>TMANE SELECT
• NP_068749.3:p.Glu27Ter
• NC_000007.13:g.105173307G>T
• NM_021930.4:c.79G>T
• NR_144478.2:n.194G>T

This HGVS expression did not pass validation

Protein change:

E27*

Molecular consequence:

• NM_001346599.2:c.-19G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346600.2:c.-941G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346601.2:c.-844G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346603.2:c.-464G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_144478.2:n.194G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_021930.6:c.79G>T - nonsense - [Sequence Ontology: SO:0001587]