All transcript variants in gene CHRNG

Information The variants shown are described using the NM_005199.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 8 c.807dup - r.(?) p.(Gly270Trpfs*28) g.233407986dup g.232543276dup 807dupT - CHRNG_000045 Homozygote; Previously reported:cDNA 807insT, Mature protein after signal peptide cleavage248-274, 275X. - - - Germline - - - 0 - Johan den Dunnen
+?/. - c.807dup likely pathogenic r.(?) p.(Gly270Trpfs*28) g.233407986dup - CHRNG:NM_005199.4:c.806_807insT, NM_145702.1:c.*4831_*4832insA - CHRNG_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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