Variant #0000254927 (NC_000011.9:g.67160222A>G, PPP1CA(NM_002708.3):c.*5784T>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67160222A>G
DNA change (hg38) g.67392751A>G
Published as RAD9A(NM_004584.3):c.203A>G (p.Q68R)
ISCN -
DB-ID RAD9A_000001
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PPP1CA NM_002708.3 -?/. - c.*5784T>C r.(=) p.(=)
RAD9A NM_004584.2 -?/. - c.203A>G r.(?) p.(Gln68Arg)
CLCF1 NM_013246.2 -?/. - c.-19212T>C r.(?) p.(=)
POLD4 NM_021173.4 -?/. - c.-39352T>C r.(?) p.(=)