Unique variants in the HAGH gene

Information The variants shown are described using the NM_005326.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.748-16T>C r.(=) p.(=) - benign g.1859850A>G g.1809849A>G HAGH(NM_001040427.2):c.604-16T>C - HAGH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.828-49C>G r.(=) p.(=) - benign g.1859432G>C g.1809431G>C HAGH(NM_001040427.2):c.684-49C>G - HAGH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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