Genomic variant #0000001004

Individual ID 00000019
Chromosome 4
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.123664427G>C
DNA change (hg38) g.122743272G>C
Published as -
ISCN -
DB-ID BBS12_000040 See all 4 reported entries
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID rs13135766
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.17492 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
BBS12 NM_001178007.1 -?/. 3 c.1380G>C - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 LOVD-team, but with Curator vacancy