Genomic variant #0000346315

Chromosome 15
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.59453379C>T
DNA change (hg38) g.59161180C>T
Published as -
ISCN -
DB-ID MYO1E_000017
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00039 View details
Owner VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYO1E NM_004998.3 ?/. - c.2678G>A r.(?) p.(Gly893Asp)
LDHAL6B NM_033195.2 ?/. - c.-45761C>T r.(?) p.(=)