Variant #0000521442 (NC_000004.11:g.122766846T>C, BBS7(NM_176824.2):c.1043A>G)

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.122766846T>C
DNA change (hg38) g.121845691T>C
Published as BBS7(NM_176824.2):c.1043A>G (p.E348G)
ISCN -
DB-ID BBS7_000044
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) 9.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BBS7 NM_176824.2 ?/. - c.1043A>G r.(?) p.(Glu348Gly)