ClinVar

NM_021930.6(RINT1):c.84G>A (p.Glu28=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 105532865 (on Assembly GRCh38)
• Chr7: 105173312 (on Assembly GRCh37)

Preferred name:

NM_021930.6(RINT1):c.84G>A (p.Glu28=)

HGVS:

• NC_000007.14:g.105532865G>A
• NG_051951.1:g.5785G>A
• NM_001346599.2:c.-14G>A
• NM_001346600.2:c.-936G>A
• NM_001346601.2:c.-839G>A
• NM_001346603.2:c.-459G>A
• NM_021930.6:c.84G>AMANE SELECT
• NP_068749.3:p.Glu28=
• NC_000007.13:g.105173312G>A
• NM_021930.4:c.84G>A
• NR_144478.2:n.199G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1060504807

NCBI 1000 Genomes Browser:

rs1060504807

Molecular consequence:

• NM_001346599.2:c.-14G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346600.2:c.-936G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346601.2:c.-839G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001346603.2:c.-459G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_144478.2:n.199G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_021930.6:c.84G>A - synonymous variant - [Sequence Ontology: SO:0001819]