chr8:17919807:A>G Detail (hg19) (ASAH1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr8:17,919,807-17,919,807
hg38	chr8:18,062,298-18,062,298 View the variant detail on this assembly version.

HGVS

ASAH1

Type	Transcript	Protein
RefSeq	NM_001127505.2:c.611T>C	NP_001120977.1:p.Met204Thr
	NM_004315.5:c.677T>C	NP_004306.3:p.Met226Thr
Ensemble	ENST00000314146.10:c.611T>C	ENST00000314146.10:p.Met204Thr
	ENST00000381733.9:c.677T>C	ENST00000381733.9:p.Met226Thr
	ENST00000520781.6:c.554T>C	ENST00000520781.6:p.Met185Thr
	ENST00000636128.1:c.383-840T>C
	ENST00000636171.1:c.572T>C	ENST00000636171.1:p.Met191Thr
	ENST00000636455.1:c.677T>C	ENST00000636455.1:p.Met226Thr
	ENST00000636577.1:c.569T>C	ENST00000636577.1:p.Met190Thr
	ENST00000636691.1:c.434T>C	ENST00000636691.1:p.Met145Thr
	ENST00000636997.1:c.542T>C	ENST00000636997.1:p.Met181Thr
	ENST00000637528.1:c.566T>C	ENST00000637528.1:p.Met189Thr
	ENST00000637636.1:c.623T>C	ENST00000637636.1:p.Met208Thr
	ENST00000637790.2:c.629T>C	ENST00000637790.2:p.Met210Thr
	ENST00000637922.1:c.434T>C	ENST00000637922.1:p.Met145Thr
	ENST00000637991.1:c.602T>C	ENST00000637991.1:p.Met201Thr

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

ASAH1

Type	Database	ID	Link
Gene	MIM	613468	OMIM
	HGNC	735	HGNC
	Ensembl	ENSG00000104763	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2018-01-13	criteria provided, single submitter	Farber lipogranulomatosis	germline	Detail
Pathogenic	2017-01-01	no assertion criteria provided	Childhood epilepsy with centrotemporal spikes	germline	Detail
Conflicting interpretations of pathogenicity	2024-02-01	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2022-12-21	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2021-03-30	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely benign	2023-10-25	criteria provided, single submitter	ASAH1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND Farber lipogranulomatosis	ClinVar	Detail
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND Childhood epilepsy with centrotemporal spikes	ClinVar	Detail
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND not provided	ClinVar	Detail
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND not specified	ClinVar	Detail
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND Inborn genetic diseases	ClinVar	Detail
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) AND ASAH1-related disorder	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: rs141068211 dbSNP
Genome: hg19
Position: chr8:17,919,807-17,919,807
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8654
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): 121410
Allele Counts in All Race (ExAC): 81
Heterozygous Counts in All Race (ExAC): 81
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 6.671608598962194E-4

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