Genomic variant #0000001820

Chromosome 1
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.68904660A>C
Published as -
GERP -0.301
Segregation -
DB-ID RPE65_000006
dbSNP ID rs149916178
Frequency -
Sources ; clinvar; ensembl;
Reference 19431183;23757202
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00077 View details
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
RPE65 NM_000329.2 -/- c.963T>G p.(Asn321Lys) missense_variant - 9/14 benign(0.029) r.(?) tolerated(0.12)


ClinVar @ MSeqDR

104792
MedGen:CN517202
not provided
HGVS variant names NC 000001.10:g.68904661dupT
no assertion provided
Clinical Significance
Duplication
SO:1000035
Gene symbol:Gene id. RPE65:6121
SO:0001589|frameshift variant
dbSNP ID 61752906
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.0008
0.00536
0.0050
98767
MedGen:CN169374
not specified
HGVS variant names NC 000001.10:g.68904660A>C
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM003833|UniProtKB (protein):Q16518#VAR 017136
Gene symbol:Gene id. RPE65:6121
SO:0001583|missense variant
1
dbSNP ID 149916178
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs14991617816890466068904660A/CC0.0009Uniprot phenotype variantsLeber congenital amaurosis 2
CI98380816890466068904659HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM00383316890466068904660HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available