Variant #0000328175 (NC_000002.11:g.233407986dup, CHRNG(NM_005199.4):c.807dup)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.233407986dup
DNA change (hg38) g.232543276dup
Published as CHRNG(NM_005199.4):c.806_807insT (p.(Gly270TrpfsTer28))
ISCN -
DB-ID CHRNG_000045 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNG NM_005199.4 ?/. - c.807dup r.(?) p.(Gly270TrpfsTer28)
TIGD1 NM_145702.1 ?/. - c.*4831dup r.(?) p.(=)