Unique variants in gene HABP2

Information The variants shown are described using the NM_004132.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
-?/. 1 - c.70-5T>G likely benign r.spl? p.? g.115327243T>G - HABP2:c.70-5T>G - HABP2_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.95G>T likely benign r.(?) p.(Ser32Ile) g.115327273G>T - HABP2:c.95G>T (S32I) - HABP2_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1519-316C>A - - p.(=) g.115347648C>A g.113587889C>A - - HABP2_000001 - - - - Germline - - - - - Yu Sun
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