All transcript variants in gene ARR3

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

35 entries on 1 page. Showing entries 1 - 35.
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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.27C>T benign r.(?) p.(=) g.69489530C>T - ARR3(NM_004312.2):c.27C>T (p.S9=) - ARR3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - 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.214C>T pathogenic r.(?) p.(Arg72*) g.69496000C>T - ARR3(NM_004312.2):c.214C>T (p.R72*) - ARR3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - 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.402A>G likely benign r.(?) p.(=) g.69496339A>G - ARR3(NM_004312.2):c.402A>G (p.=) - ARR3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.470A>G likely benign r.(?) p.(Lys157Arg) g.69496583A>G - ARR3(NM_004312.2):c.470A>G (p.(Lys157Arg)) - ARR3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.577C>T likely benign r.(?) p.(Pro193Ser) g.69497347C>T - ARR3(NM_004312.2):c.577C>T (p.(Pro193Ser)) - ARR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.577C>T likely benign r.(?) p.(Pro193Ser) g.69497347C>T - ARR3(NM_004312.2):c.577C>T (p.(Pro193Ser)) - ARR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.749T>C VUS r.(?) p.(Val250Ala) g.69497970T>C - ARR3(NM_004312.2):c.749T>C (p.(Val250Ala)) - ARR3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.767+1G>A pathogenic r.spl? p.? g.69497989G>A - ARR3(NM_004312.2):c.767+1G>A - ARR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.869T>C likely benign r.(?) p.(Leu290Pro) g.69498455T>C - ARR3(NM_004312.2):c.869T>C (p.L290P) - ARR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - 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_004312.2):c.1052C>T (p.(Pro351Leu)) - ARR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - 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_004312.2):c.1160G>A (p.(Gly387Glu)) - ARR3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*508G>C likely benign r.(=) p.(=) g.69502124G>C - RAB41(NM_001032726.2):c.57G>C (p.(Glu19Asp)) - RAB41_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*582G>A VUS r.(=) p.(=) g.69502198G>A - RAB41(NM_001032726.2):c.124+7G>A (p.(=)) - RAB41_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*797T>C VUS r.(=) p.(=) g.69502413T>C - RAB41(NM_001032726.2):c.152T>C (p.M51T) - RAB41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*1065G>T VUS r.(=) p.(=) g.69502681G>T - RAB41(NM_001032726.2):c.210G>T (p.(Lys70Asn)) - RAB41_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*1538C>T VUS r.(=) p.(=) g.69503154C>T - RAB41(NM_001032726.2):c.271C>T (p.(Arg91Cys)) - RAB41_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*1565A>T VUS r.(=) p.(=) g.69503181A>T - RAB41(NM_001032726.2):c.298A>T (p.(Ile100Phe)) - RAB41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*1605C>T benign r.(=) p.(=) g.69503221C>T - RAB41(NM_001032726.2):c.338C>T (p.(Thr113Ile)) - RAB41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*1605C>T VUS r.(=) p.(=) g.69503221C>T - RAB41(NM_001032726.2):c.338C>T (p.(Thr113Ile)) - RAB41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*1791C>T VUS r.(=) p.(=) g.69503407C>T - RAB41(NM_001032726.2):c.385C>T (p.R129*) - ARR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1795C>G likely benign r.(=) p.(=) g.69503411C>G - RAB41(NM_001032726.2):c.389C>G (p.(Ala130Gly)) - ARR3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*1822T>C VUS r.(=) p.(=) g.69503438T>C - RAB41(NM_001032726.2):c.416T>C (p.M139T) - ARR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*2178G>A likely benign r.(=) p.(=) g.69503794G>A - RAB41(NM_001032726.2):c.453-6G>A - RAB41_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*2833G>A VUS r.(=) p.(=) g.69504449G>A - RAB41(NM_001032726.2):c.622G>A (p.(Glu208Lys)) - RAB41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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