Variant #0000263601 (NC_000004.11:g.122747146T>A, NM_176824.2:c.2017A>T (BBS7))

Chromosome 4
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.122747146T>A
DNA change (hg38) g.121825991T>A
Published as BBS7(NM_176824.2):c.2017A>T (p.M673L)
ISCN -
DB-ID BBS7_000029
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXOSC9 NM_001034194.1 ?/. - c.*9135T>A r.(=) p.(=)
CCNA2 NM_001237.3 ?/. - c.-2363A>T r.(?) p.(=)
BBS7 NM_176824.2 ?/. - c.2017A>T r.(?) p.(Met673Leu)


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