Genomic variant #0000434759

Individual ID 00000004
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as 374C>A (Arg87Arg)
ISCN -
DB-ID TYRP1_000001 See all 2 reported entries
Variant remarks -
Reference {dbSNP34509359}
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner William (Bill) Oetting




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TYRP1 NM_000550.2 ?/? 2 c.? r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000004 DNA SEQ-NG - - ACADM, AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1 13 Global Variome, with Curator vacancy