Variant #0000721946 (NC_000008.10:g.25280706C>G, NM_017634.3:c.*6667G>C (KCTD9))

Chromosome 8
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.25280706C>G
DNA change (hg38) -
Published as GNRH1(NM_000825.3):c.153G>C (p.E51D)
ISCN -
DB-ID GNRH1_000002
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) 0.00153 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-02-08 18:36:18 +01:00 (CET)
Date last edited 2022-05-09 15:51:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNRH1 NM_001083111.1 -?/. - c.141G>C r.(?) p.(Glu47Asp)
KCTD9 NM_017634.3 -?/. - c.*6667G>C r.(=) p.(=)


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