Full data view for gene ARHGEF6

Information The variants shown are described using the NM_004840.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.166-11T>C likely benign r.(=) p.(=) Unknown g.135861667A>G - ARHGEF6(NM_004840.2):c.166-11T>C - ARHGEF6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.169T>C likely benign r.(?) p.(Cys57Arg) Unknown g.135861653A>G - ARHGEF6(NM_004840.2):c.169T>C (p.C57R) - ARHGEF6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.250-114_250-113insTTT - - p.(=) Unknown g.135829864_135829865insAAA g.136747705_136747706insAAA - - ARHGEF6_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.250-113dup - - p.(=) Unknown g.135829864dup g.136747705dup - - ARHGEF6_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.250-93_250-92insT - - p.(=) Unknown g.135829843_135829844insA g.136747684_136747685insA - - ARHGEF6_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.250-4A>G likely benign r.spl? p.? Unknown g.135829755T>C - ARHGEF6(NM_004840.2):c.250-4A>G - ARHGEF6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.262G>C likely benign r.(?) p.(Asp88His) Unknown g.135829739C>G - ARHGEF6(NM_004840.2):c.262G>C (p.D88H) - ARHGEF6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293A>C VUS r.(?) p.(Lys98Thr) Unknown g.135829708T>G - ARHGEF6(NM_004840.2):c.293A>C (p.(Lys98Thr)) - ARHGEF6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.362G>A likely benign r.(?) p.(Arg121His) Unknown g.135827479C>T - ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.362G>A benign r.(?) p.(Arg121His) Unknown g.135827479C>T - ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.362G>A likely benign r.(?) p.(Arg121His) Unknown g.135827479C>T - ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.362G>A - r.(?) p.(Arg121His) Parent #1 g.135827479C>T - - - ARHGEF6_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.362G>A benign r.(?) p.(Arg121His) Unknown g.135827479C>T - ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451_452del VUS r.(?) p.(Lys151Aspfs*21) Unknown g.135827390_135827391del - - - ARHGEF6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553G>A VUS r.(?) p.(Asp185Asn) Unknown g.135825852C>T - ARHGEF6(NM_004840.2):c.553G>A (p.(Asp185Asn)) - ARHGEF6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.571C>T VUS r.(?) p.(Arg191*) Unknown g.135825834G>A - ARHGEF6(NM_004840.2):c.571C>T (p.R191*) - ARHGEF6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>A likely benign r.(?) p.(Val229Ile) Unknown g.135814308C>T - ARHGEF6(NM_004840.2):c.685G>A (p.V229I, p.(Val229Ile)) - ARHGEF6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>A likely benign r.(?) p.(Val229Ile) Unknown g.135814308C>T - ARHGEF6(NM_004840.2):c.685G>A (p.V229I, p.(Val229Ile)) - ARHGEF6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.745A>G likely benign r.(?) p.(Ile249Val) Unknown g.135795517T>C - ARHGEF6(NM_004840.2):c.745A>G (p.I249V) - ARHGEF6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.801C>A likely pathogenic r.(?) p.(Tyr267*) Unknown g.135795461G>T - - - ARHGEF6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.891G>T benign r.(?) p.(Gln297His) Unknown g.135790866C>A - ARHGEF6(NM_004840.2):c.891G>T (p.(Gln297His)) - ARHGEF6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.992A>G - r.(?) p.(Tyr331Cys) Parent #1 g.135789121T>C - - - ARHGEF6_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.1170A>C likely pathogenic r.(?) p.(Leu390Phe) Unknown g.135772784T>G - - - ARHGEF6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1190C>G likely benign r.(?) p.(Thr397Ser) Unknown g.135770146G>C - ARHGEF6(NM_004840.2):c.1190C>G (p.T397S) - ARHGEF6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1223T>C VUS r.(?) p.(Ile408Thr) Unknown g.135770113A>G - ARHGEF6(NM_004840.2):c.1223T>C (p.(Ile408Thr)) - ARHGEF6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1385C>T likely benign r.(?) p.(Ala462Val) Unknown g.135767843G>A - ARHGEF6(NM_004840.2):c.1385C>T (p.A462V) - ARHGEF6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1392+55dup - - p.(=) Unknown g.135767781dup g.136685622dup - - ARHGEF6_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1392+55dup - - p.(=) Unknown g.135767781dup g.136685622dup - - ARHGEF6_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1392+73del - - p.(=) Unknown g.135767763del g.136685604del - - ARHGEF6_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1406G>A likely benign r.(?) p.(Arg469Gln) Unknown g.135764990C>T - ARHGEF6(NM_004840.2):c.1406G>A (p.R469Q) - ARHGEF6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1480-3T>C benign r.spl? p.? Unknown g.135764130A>G - ARHGEF6(NM_004840.2):c.1480-3T>C (, p.?) - ARHGEF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480-3T>C VUS r.spl? p.? Unknown g.135764130A>G - ARHGEF6(NM_004840.2):c.1480-3T>C (, p.?) - ARHGEF6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1574G>C VUS r.(?) p.(Arg525Thr) Unknown g.135763020C>G - ARHGEF6(NM_004840.2):c.1574G>C (p.R525T) - ARHGEF6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1720G>A VUS r.(?) p.(Gly574Arg) Unknown g.135761804C>T - ARHGEF6(NM_004840.2):c.1720G>A (p.G574R) - ARHGEF6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1736C>A VUS r.(?) p.(Pro579His) Unknown g.135761788G>T - - - ARHGEF6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1946-400G>A - - p.(=) Maternal (inferred) g.135757655C>T g.136675496C>T - - ARHGEF6_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2001C>T likely benign r.(?) p.(=) Unknown g.135757200G>A - ARHGEF6(NM_004840.2):c.2001C>T (p.C667=) - ARHGEF6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2003C>G VUS r.(?) p.(Thr668Ser) Unknown g.135757198G>C - ARHGEF6(NM_004840.2):c.2003C>G (p.T668S) - ARHGEF6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2062G>A likely benign r.(?) p.(Val688Ile) Unknown g.135754252C>T - ARHGEF6(NM_004840.2):c.2062G>A (p.V688I) - ARHGEF6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2089A>G VUS r.(?) p.(Ile697Val) Unknown g.135754225T>C - ARHGEF6(NM_004840.2):c.2089A>G (p.(Ile697Val)) - ARHGEF6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2093T>C VUS r.(?) p.(Ile698Thr) Unknown g.135754221A>G - ARHGEF6(NM_004840.2):c.2093T>C (p.I698T) - ARHGEF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2093T>C VUS r.(?) p.(Ile698Thr) Unknown g.135754221A>G - ARHGEF6(NM_004840.2):c.2093T>C (p.I698T) - ARHGEF6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2112C>T likely benign r.(?) p.(=) Unknown g.135754202G>A - ARHGEF6(NM_004840.2):c.2112C>T (p.N704=) - ARHGEF6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2145T>C likely benign r.(?) p.(=) Unknown g.135751686A>G - ARHGEF6(NM_004840.2):c.2145T>C (p.V715=) - ARHGEF6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2191-390_2191-388del - - p.(=) Maternal (inferred) g.135750716_135750718del g.136668557_136668559del - - ARHGEF6_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2215C>A likely benign r.(?) p.(Leu739Met) Unknown g.135750304G>T - ARHGEF6(NM_004840.2):c.2215C>A (p.L739M) - ARHGEF6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend