Unique variants in the ITIH4 gene

Information The variants shown are described using the NM_002218.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.-3074C>T r.(?) p.(=) - VUS g.52867732G>A g.52833716G>A MUSTN1(NM_205853.4):c.43C>T (p.R15C), TMEM110-MUSTN1(NM_001198974.2):c.913C>T (p.R305C) - ITIH4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1679+7G>T r.(=) p.(=) - VUS g.52855000C>A g.52820984C>A ITIH4(NM_001166449.1):c.1679+7G>T (p.(=)) - ITIH4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4832C>A r.(=) p.(=) - VUS g.52842605G>T g.52808589G>T ITIH3(NM_002217.3):c.2581G>T (p.G861C) - ITIH3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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