All transcript variants in gene ARR3

Information The variants shown are described using the NM_004312.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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.146-154C>A - - p.(=) g.69495778C>A g.70275928C>A - - ARR3_000008 - - - - Germline - - - - - Yu Sun
?/. - c.146-115G>A - - p.(=) g.69495817G>A g.70275967G>A - - ARR3_000009 - - - - Germline - - - - - Yu Sun
?/. - c.146-115G>A - - p.(=) g.69495817G>A g.70275967G>A - - ARR3_000009 - - - - Germline - - - - - Yu Sun
?/. - c.346-55T>C - - p.(=) g.69496228T>C g.70276378T>C - - ARR3_000012 - - - - Germline - - - - - Yu Sun
?/. - c.346-55T>C - - p.(=) g.69496228T>C g.70276378T>C - - ARR3_000012 - - - - Germline - - - - - Yu Sun
-?/. - c.470A>G likely benign r.(?) p.(Lys157Arg) g.69496583A>G - ARR3:NM_004312.2:c.470A>G - ARR3_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.749T>C VUS r.(?) p.(Val250Ala) g.69497970T>C - ARR3:NM_004312.2:c.749T>C - ARR3_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.869T>C likely benign r.(?) p.(Leu290Pro) g.69498455T>C - ARR3:c.869T>C (L290P) - ARR3_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.896C>G - - p.(Ser299Cys) g.69498482C>G g.70278632C>G - - ARR3_000004 - - - - Germline - - - - - Yu Sun
?/. - c.896C>G - - p.(Ser299Cys) g.69498482C>G g.70278632C>G - - ARR3_000004 - - - - Germline - - - - - Yu Sun
?/. - c.905+205C>T - - p.? g.69498696C>T g.70278846C>T - - ARR3_000001 - - - - Germline - - - - - Yu Sun
?/. - c.905+205C>T - - p.(=) g.69498696C>T g.70278846C>T - - ARR3_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1052C>T VUS r.(?) p.(Pro351Leu) g.69500654C>T - ARR3:NM_001032726.2:c.-1414C>T, NM_004312.2:c.1052C>T - ARR3_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1067-97_1067-96insG - - p.(=) g.69500852_69500853insG g.70281002_70281003insG - - ARR3_000015 - - - - Germline - - - - - Yu Sun
?/. - c.1067-86dup - - p.(=) g.69500863dup g.70281013dup - - ARR3_000003 - - - - Germline - - - - - Yu Sun
-?/. - c.1160G>A likely benign r.(?) p.(Gly387Glu) g.69501609G>A - ARR3:NM_001032726.2:c.-459G>A, NM_004312.2:c.1160G>A, … - ARR3_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend