Full data view for gene RAB41

Information The variants shown are described using the NM_001032726.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-4814C>T r.(?) p.(=) Unknown - VUS g.69497254C>T - ARR3(NM_004312.2):c.484C>T (p.R162W) - ARR3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4721C>T r.(?) p.(=) Unknown - likely benign g.69497347C>T g.70277497C>T ARR3(NM_004312.2):c.577C>T (p.P193S) - ARR3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4677C>G r.(?) p.(=) Unknown - likely benign g.69497391C>G - ARR3(NM_004312.3):c.609+12C>G - ARR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4491C>T r.(?) p.(=) Unknown - likely benign g.69497577C>T - ARR3(NM_004312.3):c.621C>T (p.H207=) - ARR3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4098T>C r.(?) p.(=) Unknown - VUS g.69497970T>C g.70278120T>C ARR3(NM_004312.2):c.749T>C (p.(Val250Ala)) - ARR3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4079G>A r.(?) p.(=) Unknown - pathogenic g.69497989G>A g.70278139G>A ARR3(NM_004312.2):c.767+1G>A (p.?) - ARR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4079G>A r.(?) p.(=) Unknown - likely pathogenic g.69497989G>A - ARR3(NM_004312.2):c.767+1G>A (p.?) - ARR3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3638C>T r.(?) p.(=) Unknown - VUS g.69498430C>T g.70278580C>T ARR3(NM_004312.2):c.844C>T (p.R282W) - ARR3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3634del r.(?) p.(=) Unknown - pathogenic g.69498434del g.70278584del ARR3(NM_004312.2):c.848delG (p.G283Afs*42), ARR3(NM_004312.3):c.848delG (p.G283Afs*42) - ARR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3634del r.(?) p.(=) Unknown - pathogenic g.69498434del - ARR3(NM_004312.2):c.848delG (p.G283Afs*42), ARR3(NM_004312.3):c.848delG (p.G283Afs*42) - ARR3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3613T>C r.(?) p.(=) Unknown - likely benign g.69498455T>C g.70278605T>C ARR3(NM_004312.2):c.869T>C (p.L290P) - ARR3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3592T>G r.(?) p.(=) Unknown - VUS g.69498476T>G - - - ARR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1432C>A r.(?) p.(=) Unknown - VUS g.69500636C>A - - - ARR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1414C>G r.(?) p.(=) Unknown - VUS g.69500654C>G - ARR3(NM_004312.2):c.1052C>G (p.P351R), ARR3(NM_004312.3):c.1052C>G (p.P351R) - ARR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1414C>G r.(?) p.(=) Unknown - likely benign g.69500654C>G - ARR3(NM_004312.2):c.1052C>G (p.P351R), ARR3(NM_004312.3):c.1052C>G (p.P351R) - ARR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1414C>T r.(?) p.(=) Unknown - VUS g.69500654C>T g.70280804C>T ARR3(NM_004312.2):c.1052C>T (p.P351L, p.(Pro351Leu)) - ARR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1414C>T r.(?) p.(=) Unknown - VUS g.69500654C>T g.70280804C>T ARR3(NM_004312.2):c.1052C>T (p.P351L, p.(Pro351Leu)) - ARR3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14A>G r.(?) p.(=) Maternal (inferred) - VUS g.69502054A>G g.70282204A>G - - RAB41_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-14A>G r.(?) p.(=) Maternal (inferred) - VUS g.69502054A>G g.70282204A>G - - RAB41_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.13G>C r.(?) p.(Gly5Arg) Unknown - VUS g.69502080G>C - RAB41(NM_001032726.2):c.13G>C (p.(Gly5Arg)) - ARR3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124+7G>A r.(=) p.(=) Unknown - VUS g.69502198G>A g.70282348G>A RAB41(NM_001032726.2):c.124+7G>A (p.(=)) - RAB41_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152T>C r.(?) p.(Met51Thr) Unknown - VUS g.69502413T>C g.70282563T>C RAB41(NM_001032726.2):c.152T>C (p.M51T) - RAB41_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.180+38A>G r.(=) p.(=) Maternal (inferred) - VUS g.69502479A>G g.70282629A>G - - RAB41_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.180+38A>G r.(=) p.(=) Maternal (inferred) - VUS g.69502479A>G g.70282629A>G - - RAB41_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.210G>T r.(?) p.(Lys70Asn) Unknown - VUS g.69502681G>T g.70282831G>T RAB41(NM_001032726.2):c.210G>T (p.(Lys70Asn)) - RAB41_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214A>G r.(?) p.(Met72Val) Unknown - VUS g.69502685A>G - RAB41(NM_001363807.1):c.217A>G (p.M73V) - ARR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236T>C r.(?) p.(Val79Ala) Unknown - VUS g.69503119T>C - RAB41(NM_001032726.2):c.236T>C (p.V79A) - ARR3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.298A>T r.(?) p.(Ile100Phe) Unknown - VUS g.69503181A>T g.70283331A>T RAB41(NM_001032726.2):c.298A>T (p.(Ile100Phe)) - RAB41_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301C>T r.(?) p.(Arg101Cys) Unknown - VUS g.69503184C>T - RAB41(NM_001363807.1):c.304C>T (p.(Arg102Cys)) - ARR3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.338C>T r.(?) p.(Thr113Ile) Unknown - benign g.69503221C>T g.70283371C>T RAB41(NM_001032726.2):c.338C>T (p.T113I, p.(Thr113Ile)) - RAB41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338C>T r.(?) p.(Thr113Ile) Unknown - VUS g.69503221C>T g.70283371C>T RAB41(NM_001032726.2):c.338C>T (p.T113I, p.(Thr113Ile)) - RAB41_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385C>T r.(?) p.(Arg129Ter) Unknown - VUS g.69503407C>T g.70283557C>T RAB41(NM_001032726.2):c.385C>T (p.R129*) - ARR3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416T>C r.(?) p.(Met139Thr) Unknown - VUS g.69503438T>C g.70283588T>C RAB41(NM_001032726.2):c.416T>C (p.M139T) - ARR3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547-43T>C r.(=) p.(=) Unknown - VUS g.69504073T>C g.70284223T>C - - RAB41_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.547-43T>C r.(=) p.(=) Unknown - VUS g.69504073T>C g.70284223T>C - - RAB41_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.547-38T>G r.(=) p.(=) Unknown - VUS g.69504078T>G g.70284228T>G - - RAB41_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.547-38T>G r.(=) p.(=) Unknown - VUS g.69504078T>G g.70284228T>G - - RAB41_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.561G>C r.(=) p.(=) Parent #1 - VUS g.69504130G>C g.70284280G>C V188V - RAB41_000017 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.622G>A r.(?) p.(Glu208Lys) Unknown - VUS g.69504449G>A g.70284599G>A RAB41(NM_001032726.2):c.622G>A (p.(Glu208Lys)) - RAB41_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.636C>T r.(=) p.(=) Parent #1 - VUS g.69504463C>T g.70284613C>T F213F - RAB41_000002 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.*2626C>T r.(=) p.(=) Unknown - likely benign g.69507119C>T g.70287269C>T PDZD11(NM_016484.4):c.388+7G>A (p.(=)) - RAB41_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3869C>T r.(=) p.(=) Unknown - VUS g.69508362C>T g.70288512C>T PDZD11(NM_016484.4):c.89G>A (p.R30K) - RAB41_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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