Full data view for gene ARHGAP36

Information The variants shown are described using the NM_144967.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.82T>C r.(?) p.(Phe28Leu) Unknown - likely benign g.130215721T>C g.131081747T>C ARHGAP36(NM_144967.3):c.82T>C (p.(Phe28Leu)) - ARHGAP36_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>A r.(?) p.(Asn42Lys) Unknown - likely benign g.130215765C>A - ARHGAP36(NM_144967.4):c.126C>A (p.N42K) - ARHGAP36_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215T>C r.(?) p.(Val72Ala) Unknown - likely benign g.130215854T>C g.131081880T>C ARHGAP36(NM_144967.4):c.215T>C (p.V72A) - ARHGAP36_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254-151G>A r.(=) p.(=) Maternal (inferred) - VUS g.130216988G>A g.131083014G>A - - ARHGAP36_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.254-151G>A r.(=) p.(=) Maternal (inferred) - VUS g.130216988G>A g.131083014G>A - - ARHGAP36_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - likely benign g.130217876G>A - ARHGAP36(NM_144967.4):c.488G>A (p.R163Q) - ARHGAP36_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748+70G>A r.(=) p.(=) Maternal (inferred) - VUS g.130218451G>A g.131084477G>A - - ARHGAP36_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.748+70G>A r.(=) p.(=) Maternal (inferred) - VUS g.130218451G>A g.131084477G>A - - ARHGAP36_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.793C>G r.(?) p.(Arg265Gly) Unknown - VUS g.130218644C>G g.131084670C>G ARHGAP36(NM_144967.4):c.793C>G (p.R265G) - ARHGAP36_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895C>T r.(?) p.(Arg299Cys) Unknown - VUS g.130218978C>T g.131085004C>T ARHGAP36(NM_144967.4):c.895C>T (p.R299C) - ARHGAP36_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956-217_956-216dup r.(=) p.(=) Unknown - VUS g.130219345_130219346dup g.131085371_131085372dup - - ARHGAP36_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.956-217_956-216dup r.(=) p.(=) Unknown - VUS g.130219345_130219346dup g.131085371_131085372dup - - ARHGAP36_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.956-216dup r.(=) p.(=) Unknown - VUS g.130219346dup g.131085372dup - - ARHGAP36_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.956-216dup r.(=) p.(=) Unknown - VUS g.130219346dup g.131085372dup - - ARHGAP36_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.956-216dup r.(=) p.(=) Unknown - VUS g.130219346dup g.131085372dup - - ARHGAP36_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.956-216dup r.(=) p.(=) Maternal (inferred) - VUS g.130219346dup g.131085372dup - - ARHGAP36_000025 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.960A>G r.(?) p.(Leu320=) Unknown - likely benign g.130219566A>G - ARHGAP36(NM_144967.4):c.960A>G (p.L320=) - ARHGAP36_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037G>A r.(?) p.(Arg346His) Unknown - VUS g.130219643G>A g.131085669G>A ARHGAP36(NM_144967.4):c.1037G>A (p.R346H) - ARHGAP36_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1104+13T>C r.(=) p.(=) Maternal (inferred) - VUS g.130219723T>C g.131085749T>C - - ARHGAP36_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1104+13T>C r.(=) p.(=) Maternal (inferred) - VUS g.130219723T>C g.131085749T>C - - ARHGAP36_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1335G>A r.(?) p.(Pro445=) Unknown - likely benign g.130220356G>A - ARHGAP36(NM_144967.4):c.1335G>A (p.P445=) - ARHGAP36_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1393A>G r.(?) p.(Lys465Glu) Unknown - likely benign g.130220546A>G g.131086572A>G ARHGAP36(NM_144967.4):c.1393A>G (p.K465E) - ARHGAP36_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1487-148T>A r.(=) p.(=) Maternal (inferred) - VUS g.130222454T>A g.131088480T>A - - ARHGAP36_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1487-148T>A r.(=) p.(=) Maternal (inferred) - VUS g.130222454T>A g.131088480T>A - - ARHGAP36_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1487-67G>A r.(=) p.(=) Maternal (inferred) - VUS g.130222535G>A g.131088561G>A - - ARHGAP36_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1487-67G>A r.(=) p.(=) Maternal (inferred) - VUS g.130222535G>A g.131088561G>A - - ARHGAP36_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*378G>A r.(=) p.(=) Maternal (inferred) - VUS g.130223137G>A g.131089163G>A - - ARHGAP36_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*378G>A r.(=) p.(=) Maternal (inferred) - VUS g.130223137G>A g.131089163G>A - - ARHGAP36_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*534C>T r.(=) p.(=) Maternal (inferred) - VUS g.130223293C>T g.131089319C>T - - ARHGAP36_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*534C>T r.(=) p.(=) Maternal (inferred) - VUS g.130223293C>T g.131089319C>T - - ARHGAP36_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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