All transcript variants in gene RTP1

Information The variants shown are described using the NM_153708.2 transcript reference sequence.

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

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.447del likely benign r.(?) p.(Asn149Lysfs*103) g.186917513del - RTP1:NM_153708.2:c.447del - RTP1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.578C>A likely benign r.(?) p.(Ala193Asp) g.186917644C>A - RTP1:NM_153708.2:c.578C>A - RTP1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.698G>T likely benign r.(?) p.(Gly233Val) g.186917764G>T - RTP1:NM_153708.2:c.698G>T - RTP1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend