chr17:44913325:A>C Detail (hg38) (GFAP)

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

Genome

Assembly	Position
hg19	chr17:42,990,693-42,990,693 View the variant detail on this assembly version.
hg38	chr17:44,913,325-44,913,325

HGVS

GFAP

Type	Transcript	Protein
RefSeq	NM_001131019.2:c.724T>G	NP_001124491.1:p.Tyr242Asp
	NM_002055.4:c.724T>G	NP_002046.1:p.Tyr242Asp
	NM_001242376.1:c.724T>G	NP_001229305.1:p.Tyr242Asp
Ensemble	ENST00000253408.11:c.724T>G	ENST00000253408.11:p.Tyr242Asp
	ENST00000435360.8:c.724T>G	ENST00000435360.8:p.Tyr242Asp
	ENST00000588735.3:c.724T>G	ENST00000588735.3:p.Tyr242Asp
	ENST00000638281.1:c.724T>G	ENST00000638281.1:p.Tyr242Asp
	ENST00000639277.1:c.724T>G	ENST00000639277.1:p.Tyr242Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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Links

GFAP

Type	Database	ID	Link
Gene	MIM	137780	OMIM
	HGNC	4235	HGNC
	Ensembl	ENSG00000131095	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
not provided		no assertion provided	not provided	not provided	Detail
not provided		no assertion provided	Alexander disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.527	Alexander disease	Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of...	BeFree	24003221	Detail
<0.001	Alexander disease	Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of...	BeFree	24003221	Detail
0.527	Alexander disease	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) AND not provided	ClinVar	Detail
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) AND Alexander disease	ClinVar	Detail
Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr ...	DisGeNET	Detail
Because K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr ...	DisGeNET	Detail
NA	DisGeNET	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: rs60551555 dbSNP
Genome: hg38
Position: chr17:44,913,325-44,913,325
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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