Variant #0000544558 (NC_000011.9:g.534289C>T, LRRC56(NM_198075.3):c.-3738C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.534289C>T
DNA change (hg38) g.534289C>T
Published as HRAS(NM_005343.2):c.34G>A (p.G12S), HRAS(NM_176795.4):c.34G>A (p.G12S)
ISCN -
DB-ID HRAS_000002 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRAS NM_005343.2 +/. - c.34G>A r.(?) p.(Gly12Ser)
C11orf35 NM_173573.2 +/. - c.*20691G>A r.(=) p.(=)
LRRC56 NM_198075.3 +/. - c.-3738C>T r.(?) p.(=)