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.
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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 VUS r.(?) p.(Asn149Lysfs*103) g.186917513del - RTP1(NM_153708.2):c.447del (p.(Asn149LysfsTer103)) - RTP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.578C>A VUS r.(?) p.(Ala193Asp) g.186917644C>A - RTP1(NM_153708.2):c.578C>A (p.(Ala193Asp)) - RTP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.698G>T VUS r.(?) p.(Gly233Val) g.186917764G>T - RTP1(NM_153708.2):c.698G>T (p.(Gly233Val)) - RTP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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