View genomic variant #0000000769

Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30199167C>G
Published as -
GERP 5.830
Segregation -
DB-ID C19orf12_000002 See all 2 reported entries
MSCV MSCV_0000769
dbSNP ID rs376103979
Frequency -
Sources ; clinvar;
Reference 20039086;23857908
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) 0.00025 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

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Variant ID     

Affects function     

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DNA change (cDNA)     

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RNA change     

Protein     

PolyPhen     

GVS function     

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SIFT     
C19orf12 00003109 NM_031448.4 0000000769 +/+ - 1/2 c.154G>C - r.(?) p.(Ala52Pro) probably_damaging(0.994) missense_variant - tolerated(0.06)
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ClinVar @ MSeqDR

RCVaccession RCV000074454; RCV000074453; RCV000493663;
Chromosome 19:30199167..30199167
Allele frequencies from ESP 0.00025
ClinVar Allele ID 94434
Disease database name and identifier MedGen:C2680446, OMIM:615043|MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560|MedGen:CN517202
ClinVar preferred disease name Spastic paraplegia 43, autosomal recessive|Neurodegeneration with brain iron accumulation 4|not provided
HGVS variant names NC 000019.9:g.30199167C>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:614297.0006|UniProtKB (protein):Q9NSK7#VAR 070668
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 376103979
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None