Variant #0000324374 (NC_000016.9:g.727043A>C, NM_005861.2:c.-3483A>C (STUB1))

Chromosome 16
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.727043A>C
DNA change (hg38) g.677043A>C
Published as RHBDL1(NM_001278720.1):c.499A>C (p.(Lys167Gln))
ISCN -
DB-ID RHBDL1_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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JMJD8 NM_001005920.2 ?/. - c.*5751T>G r.(=) p.(=)
RHBDL1 NM_003961.1 ?/. - c.694A>C r.(?) p.(Lys232Gln)
STUB1 NM_005861.2 ?/. - c.-3483A>C r.(?) p.(=)
RHOT2 NM_138769.2 ?/. - c.*3437A>C r.(=) p.(=)


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