Genomic variant #0000000572

Individual ID 00000094
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52643564G>A
DNA change (hg38) g.52351367G>A
Published as -
ISCN -
DB-ID MYO5A_000001 See all 31 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.14636 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYO5A NM_000259.3 ?/. - c.3736C>T - r.(?) p.(Arg1246Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000094 DNA SEQ-NG - - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 14 LOVD-team, but with Curator vacancy