View genomic variant #0000000766

Chromosome 19
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30193716A>T
Published as -
GERP 4.030
Segregation -
DB-ID C19orf12_000006
MSCV MSCV_0000766
dbSNP ID NA
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 0000000766 ./. - 3/3 c.329T>A - r.(?) p.(Leu110Gln) possibly_damaging(0.603) missense_variant - tolerated(0.08)
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None