Variant #0000000101 (NC_000001.10:g.43804340G>A, RHO(NM_000539.3):c.936+1G>T)

Individual ID 00000041, 00000101, 00409498, 00411617
Chromosome 1
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.43804340G>A
DNA change (hg38) g.43338669G>A
Published as -
ISCN -
DB-ID MPL_000001 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02479 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
TIMP3 NM_000362.4 +?/. - c.572A>G r.(?) p.(Tyr191Cys) -
RHO NM_000539.3 +?/. 4i c.936+1G>T r.(?) p.? -
MPL NM_005373.2 ?/. - c.340G>A r.(?) p.(Val114Met) -
CYP4V2 NM_207352.3 +?/. - c.1198C>T r.(?) p.(Arg400Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000041 DNA SEQ-NG - - ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1 13 Global Variome, with Curator vacancy
0000000101 DNA SEQ-NG - - ATP7B, ETFB, GLB1, NPHS1, SERPINA1 7 Global Variome, with Curator vacancy
0000410762 DNA SEQ blood - CYP4V2 1 LOVD
0000412889 DNA SSCA;RFLP;SEQ blood - RHO 1 LOVD