Genomic variant #0000322304

Chromosome 11
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.64893274C>G
DNA change (hg38) g.65125802C>G
Published as MRPL49(NM_004927.3):c.431C>G (p.(Thr144Arg))
ISCN -
DB-ID MRPL49_000001
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) 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     
FAU NM_001997.4 ?/. - c.-3721G>C r.(?) p.(=)
MRPL49 NM_004927.3 ?/. - c.431C>G r.(?) p.(Thr144Arg)
SYVN1 NM_032431.2 ?/. - c.*2580G>C r.(=) p.(=)