Full data view for gene BHLHB9

Information The variants shown are described using the NM_030639.2 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-5330A>G likely benign r.(?) p.(=) Unknown g.101970852A>G - GPRASP2(NM_001184874.2):c.1055A>G (p.H352R) - ARMCX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5087C>T likely benign r.(?) p.(=) Unknown g.101971095C>T - GPRASP2(NM_001184874.2):c.1298C>T (p.A433V) - ARMCX5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4682G>A VUS r.(?) p.(=) Unknown g.101971500G>A - ARMCX5-GPRASP2(NM_001199818.1):c.1703G>A (p.(Arg568Gln)) - ARMCX5-GPRASP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4225G>A likely benign r.(?) p.(=) Unknown g.101971957G>A - GPRASP2(NM_001184874.2):c.2160G>A (p.M720I) - ARMCX5-GPRASP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.394A>G likely benign r.(?) p.(Ser132Gly) Unknown g.102004317A>G - BHLHB9(NM_001142524.1):c.394A>G (p.(Ser132Gly)) - BHLHB9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450G>T likely benign r.(?) p.(Glu150Asp) Unknown g.102004373G>T - BHLHB9(NM_001142524.1):c.450G>T (p.E150D) - BHLHB9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461C>T likely benign r.(?) p.(Ala154Val) Unknown g.102004384C>T - BHLHB9(NM_001142524.1):c.461C>T (p.A154V) - BHLHB9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.565A>C likely benign r.(?) p.(Asn189His) Unknown g.102004488A>C - BHLHB9(NM_001142524.1):c.565A>C (p.N189H) - BHLHB9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.655A>G likely benign r.(?) p.(Ile219Val) Unknown g.102004578A>G - BHLHB9(NM_001142524.1):c.655A>G (p.(Ile219Val)) - BHLHB9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.943A>G VUS r.(?) p.(Lys315Glu) Unknown g.102004866A>G - BHLHB9(NM_001142524.1):c.943A>G (p.K315E) - BHLHB9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.952T>C likely benign r.(?) p.(Cys318Arg) Unknown g.102004875T>C - BHLHB9(NM_001142524.1):c.952T>C (p.(Cys318Arg)) - BHLHB9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.969G>A VUS r.(?) p.(=) Unknown g.102004892G>A - BHLHB9(NM_001142524.1):c.969G>A (p.E323=) - BHLHB9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.1212T>C - r.(?) p.(=) Parent #1 g.102005135T>C - H404H - BHLHB9_000008 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.1625A>C VUS r.(?) p.(Glu542Ala) Unknown g.102005548A>C - BHLHB9(NM_001142524.1):c.1625A>C (p.(Glu542Ala)) - BHLHB9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1310del - - p.(=) Unknown g.102006877del g.102751949del - - BHLHB9_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1310_*1311del - - p.(=) Unknown g.102006877_102006878del g.102751949_102751950del - - BHLHB9_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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