All transcript variants in gene ACTR1A

Information The variants shown are described using the NM_005736.3 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.-1703G>A benign r.(?) p.(=) g.104264107C>T - SUFU(NM_016169.3):c.182+16C>T (p.?) - SUFU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-1703G>A benign r.(?) p.(=) g.104264107C>T - SUFU(NM_016169.3):c.182+16C>T (p.?) - SUFU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.-1647G>A pathogenic r.(?) p.(=) g.104264051C>T - SUFU(NM_016169.3):c.142C>T (p.(Gln48*)) - ACTR1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-1570del pathogenic r.(?) p.(=) g.104263980del - SUFU(NM_016169.3):c.71delC (p.P24Rfs*72) - ACTR1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-1545C>G likely benign r.(?) p.(=) g.104263949G>C - SUFU(NM_001178133.1):c.40G>C (p.(Ala14Pro)) - ACTR1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-1542T>G likely benign r.(?) p.(=) g.104263946A>C - SUFU(NM_001178133.1):c.37A>C (p.(Thr13Pro)) - ACTR1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-1536C>G likely benign r.(?) p.(=) g.104263940G>C - SUFU(NM_001178133.1):c.31G>C (p.(Gly11Arg)) - ACTR1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-1517C>T benign r.(?) p.(=) g.104263921G>A - SUFU(NM_016169.3):c.12G>A (p.=) - SUFU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.*10053G>A likely benign r.(=) p.(=) g.104230567C>T - TMEM180(NM_024789.3):c.397C>T (p.(Leu133Phe)) - TMEM180_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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