View genomic variant #0000002728

Chromosome 19
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193830G>A
Published as -
GERP 5.200
Segregation -
DB-ID C19orf12_000009 See all 3 reported entries
MSCV MSCV_0002728
dbSNP ID rs201987973
Frequency -
Sources ;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
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     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
C19orf12 00003109 NM_031448.4 0000002728 ?/? - 2/2 c.215C>T - r.(?) p.(Pro72Leu) probably_damaging(0.985) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000211114;
Chromosome 19:30193830..30193830
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 227688
Disease database name and identifier MedGen:C3280371, OMIM:614298, Orphanet:ORPHA289560
ClinVar preferred disease name Neurodegeneration with brain iron accumulation 4
HGVS variant names NC 000019.9:g.30193830G>A
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:614297.0008
Gene symbol:Gene id. C19orf12:83636
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 201987973
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