Unique variants in gene POTEC

Information The variants shown are described using the NM_001137671.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
./. 1 - c.-722355_*1089855dup r.? p.? - pathogenic g.13422042_15265500dup g.13422043_15265501dup - - ANKRD20A5P_000001 mosaicism, copy number 3 in 0.50 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. 1 - c.83T>G r.(?) p.(Phe28Cys) - VUS g.14543063A>C g.14543064A>C - - POTEC_000004 - - - rs45626231 Germline yes - - - - Xiang Jiao
?/. 1 - c.107A>G r.(?) p.(Lys36Arg) - VUS g.14543039T>C g.14543040T>C - - POTEC_000002 - - - rs45570841 Germline yes - - - - Xiang Jiao
?/. 1 - c.197A>G r.(?) p.(His66Arg) - VUS g.14542949T>C g.14542950T>C - - POTEC_000006 - - - rs9807555 Germline yes - - - - Xiang Jiao
?/. 1 - c.215G>A r.(?) p.(Cys72Tyr) - VUS g.14542931C>T g.14542932C>T - - POTEC_000005 - - - rs45554841 Germline yes - - - - Xiang Jiao
?/. 1 - c.498G>T r.(?) p.(Met166Ile) - VUS g.14542648C>A g.14542649C>A - - POTEC_000003 - - - rs12454500 Germline yes - - - - Xiang Jiao
?/. 2 - c.640G>A r.(?) p.(Val214Ile) - VUS g.14537970C>T g.14537971C>T - - POTEC_000001 - - - rs148283099 Germline yes - - - - Xiang Jiao
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