Variant #0000891550 (NC_000013.10:g.44455428A>G, NM_144974.3:c.-1861T>C (CCDC122))

Chromosome 13
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.44455428A>G
DNA change (hg38) -
Published as LACC1(NM_001128303.2):c.307A>G (p.I103V)
ISCN -
DB-ID CCDC122_000008
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) 0 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-11-01 13:01:21 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC122 NM_144974.3 -?/. - c.-1861T>C r.(?) p.(=)
LACC1 NM_153218.2 -?/. - c.307A>G r.(?) p.(Ile103Val)


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