chr16:74774524:C>T Detail (hg38) (FA2H)

Information

Genome

Assembly Position
hg19 chr16:74,808,422-74,808,422 View the variant detail on this assembly version.
hg38 chr16:74,774,524-74,774,524

HGVS

Type Transcript Protein
RefSeq NM_024306.4:c.232G>A NP_077282.3:p.Glu78Lys
Ensemble ENST00000219368.8:c.232G>A ENST00000219368.8:p.Glu78Lys
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 611026 OMIM
HGNC 21197 HGNC
Ensembl ENSG00000103089 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv396472646 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2018-10-31 criteria provided, conflicting interpretations hereditary spastic paraplegia 35 germline maternal unknown Detail
Uncertain significance 2021-09-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-08-29 criteria provided, single submitter Spastic paraplegia germline Detail
Uncertain significance 2016-12-12 criteria provided, single submitter hereditary spastic paraplegia germline Detail
Uncertain significance 2022-03-06 criteria provided, single submitter not specified germline Detail
Uncertain significance 2021-12-16 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND Hereditary spastic paraplegia 35 ClinVar Detail
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND not provided ClinVar Detail
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND Spastic paraplegia ClinVar Detail
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND Hereditary spastic paraplegia ClinVar Detail
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND not specified ClinVar Detail
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) AND Inborn genetic diseases 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
rs527421775 dbSNP
Genome
hg38
Position
chr16:74,774,524-74,774,524
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
4288
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
59456
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.5320236813778257E-4
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