chr19:29708345:C>T Detail (hg38) (C19orf12)

Information

Genome

Assembly Position
hg19 chr19:30,199,252-30,199,252 View the variant detail on this assembly version.
hg38 chr19:29,708,345-29,708,345

HGVS

Type Transcript Protein
RefSeq NM_001256046.1:c.69G>A NP_001242975.1:p.Ala23=
NM_031448.4:c.69G>A NP_113636.2:p.Ala23=
NM_001282930.1:c.-32-5368G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 614297 OMIM
HGNC 25443 HGNC
Ensembl ENSG00000131943 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv405206713 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter hereditary spastic paraplegia 43 germline Detail
Likely benign 2018-01-13 criteria provided, multiple submitters, no conflicts neurodegeneration with brain iron accumulation 4 germline Detail
Benign 2016-06-30 criteria provided, single submitter not specified germline Detail
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2020-10-15 criteria provided, single submitter hereditary spastic paraplegia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND Hereditary spastic paraplegia 43 ClinVar Detail
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND Neurodegeneration with brain iron accumulation 4 ClinVar Detail
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND not specified ClinVar Detail
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND not provided ClinVar Detail
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) AND Hereditary spastic paraplegia ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs201118405 dbSNP
Genome
hg38
Position
chr19:29,708,345-29,708,345
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1606313834726091E-4
Chromosome Counts in All Race (ExAC)
120608
Allele Counts in All Race (ExAC)
435
Heterozygous Counts in All Race (ExAC)
435
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0036067259219952244
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