Genomic variant #0000615410

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.59500186T>C
DNA change (hg38) g.59207987T>C
Published as LDHAL6B(NM_033195.2):c.1047T>C (p.(=))
ISCN -
DB-ID LDHAL6B_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYO1E NM_004998.3 ?/. - c.1530+694A>G r.(=) -
LDHAL6B NM_033195.2 ?/. - c.1047T>C r.(?) p.(Ile349=)