All variants in the NOTCH3 gene

Information The variants shown are described using the NM_000435.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
./. 2 c.160C>T - r.(?) p.(Arg54Cys) - ClinVar g.15197537G>A R54C Kheng-Seang Lim et al. (2015), dbSNP, ClinVar NOTCH3_000004 rs1555730189 2 - Nuur Athirah Binti Mohd Daud
./. 3 c.328C>T - r.(?) p.(Arg110Cys) - ClinVar g.15192389G>A R110C dbSNP, ClinVar NOTCH3_000002 rs775836288 1 - Nuur Athirah Binti Mohd Daud
+/. 3 c.328C>T R110C r.(?) p.(Arg110Cys) - Pathogenic g.15192389G>A - DOI:Hong Chuan Loh et al.(2021):10.36877/pddbs.a0000200 NOTCH3_000002 rs775836288 - - Nur Aisyah Athirah
+/. 4 c.553T>G - r.(?) p.(Cys185Gly) - - g.15192086A>C C185G - NOTCH3_000003 rs1566975069 1 - Nuur Athirah Binti Mohd Daud
./. 9 c.1490C>T - r.(?) p.(Ser497Leu) - ClinVar g.15188237G>A S497L Kheng-Seang Lim et al. (2015), dbSNP, ClinVar NOTCH3_000005 rs114207045 6 - Nuur Athirah Binti Mohd Daud
./. 11 c.1630C>T - r.(?) p.(Arg544Cys) - ClinVar g.15187315G>A R544C dbSNP, ClinVar NOTCH3_000001 rs201118034 1 - Nuur Athirah Binti Mohd Daud
./. 11 c.1630C>T - r.(?) p.(Arg544Cys) - ClinVar g.15187315G>A R544C dbSNP, ClinVar NOTCH3_000001 rs201118034 1 - Nuur Athirah Binti Mohd Daud
Legend   How to query