Genomic variant #0000036048

Individual ID 00016148
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.179665423A>G
DNA change (hg38) g.178800696A>G
Published as -
ISCN -
DB-ID TTN_000632 See all 5 reported entries
Variant remarks -
Reference PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00092 View details
Owner Terry Vrijenhoek




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
TTN NM_001267550.1 ?/? 3i c.296-14T>C - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016270 DNA SEQ;SEQ-NG leukocyte - GLA, MYBPC3, MYL3, TTN 5 Terry Vrijenhoek