View genomic variant #0000001781

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.228346316T>C
Published as -
GERP 3.940
Segregation -
DB-ID GJC2_000004
MSCV MSCV_0001781
dbSNP ID rs74315311
Frequency -
Sources ; clinvar;
Reference 15192806;17344063
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
GJC2 00003278 NM_020435.3 0000001781 +/+ c.857T>C p.(=) missense_variant - 2/2 probably_damaging(0.954) r.(=) deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000002152;
Chromosome 1:228346316..228346316
ClinVar Allele ID 17110
Disease database name and identifier MedGen:C1837355, OMIM:608804, Orphanet:ORPHA280270
ClinVar preferred disease name Leukodystrophy, hypomyelinating, 2
HGVS variant names NC 000001.10:g.228346316T>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:608803.0001|UniProtKB (protein):Q5T442#VAR 023756
Gene symbol:Gene id. GJC2:57165
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 74315311
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
rs743153111228346316228346316T/COMIM phenotype variantsLEUKODYSTROPHY, HYPOMYELINATING, 2
CM0417791228346316228346316HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available