All variants in the RIN1 gene

Information The variants shown are described using the NM_004292.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-4935G>T r.(?) p.(=) - likely benign g.66108808C>A g.66341337C>A BRMS1(NM_001024957.1):c.231-4G>T (p.?) - BRMS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.383-3C>G r.spl? p.? - likely benign g.66103156G>C - RIN1(NM_004292.3):c.383-3C>G - BRMS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1228C>T r.(?) p.(Arg410Trp) - likely pathogenic (recessive) g.66102042G>A g.66334571G>A NM_004292.2:c.1228C>T:p.(Arg410Trp) - RIN1_000004 - PubMed: Maddirevula 2018 - - Germline - - - 0 - -
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