Variant #0000339093 (NC_000011.9:g.534288C>T, LRRC56(NM_198075.3):c.-3739C>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.534288C>T
DNA change (hg38) g.534288C>T
Published as -
ISCN -
DB-ID HRAS_000012 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HRAS NM_005343.2 +/. - c.35G>A r.(?) p.(Gly12Asp)
C11orf35 NM_173573.2 +/. - c.*20692G>A r.(=) p.(=)
LRRC56 NM_198075.3 +/. - c.-3739C>T r.(?) p.(=)