Variant #0000561540 (NC_000017.10:g.40831675T>C, PLEKHH3(NM_024927.4):c.-3094A>G)

Chromosome 17
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.40831675T>C
DNA change (hg38) g.42679657T>C
Published as CCR10(NM_016602.2):c.985A>G (p.(Ser329Gly))
ISCN -
DB-ID CCR10_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
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     
CNTNAP1 NM_003632.2 -?/. - c.-3173T>C r.(?) p.(=)
CCR10 NM_016602.2 -?/. - c.985A>G r.(?) p.(Ser329Gly)
PLEKHH3 NM_024927.4 -?/. - c.-3094A>G r.(?) p.(=)