chr9:124074641:A>G Detail (hg19) (GSN)

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

Genome

Assembly	Position
hg19	chr9:124,074,641-124,074,641
hg38	chr9:121,312,363-121,312,363 View the variant detail on this assembly version.

HGVS

Type	Transcript	Protein
RefSeq	NM_001127662.1:c.571A>G	NP_001121134.1:p.Asn191Asp
	NM_001127664.1:c.571A>G	NP_001121136.1:p.Asn191Asp
	NM_001127665.1:c.571A>G	NP_001121137.1:p.Asn191Asp
	NM_001127666.1:c.571A>G	NP_001121138.1:p.Asn191Asp
	NM_001127667.1:c.571A>G	NP_001121139.1:p.Asn191Asp
	NM_198252.2:c.571A>G	NP_937895.1:p.Asn191Asp
	NM_000177.4:c.691A>G	NP_000168.1:p.Asn231Asp
	NM_001258029.1:c.589A>G	NP_001244958.1:p.Asn197Asp
	NM_001127663.1:c.646A>G	NP_001121135.2:p.Asn216Asp
	NM_001258030.1:c.562A>G	NP_001244959.1:p.Asn188Asp
Ensemble	ENST00000373808.8:c.571A>G	ENST00000373808.8:p.Asn191Asp
	ENST00000373818.8:c.691A>G	ENST00000373818.8:p.Asn231Asp
	ENST00000373823.7:c.538A>G	ENST00000373823.7:p.Asn180Asp
	ENST00000394353.7:c.589A>G	ENST00000394353.7:p.Asn197Asp
	ENST00000432226.7:c.538A>G	ENST00000432226.7:p.Asn180Asp
	ENST00000449733.7:c.646A>G	ENST00000449733.7:p.Asn216Asp
	ENST00000545652.6:c.562A>G	ENST00000545652.6:p.Asn188Asp
	ENST00000699558.1:c.610A>G	ENST00000699558.1:p.Asn204Asp

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
Review star
Show details

Links

Type	Database	ID	Link
Gene	MIM	137350	OMIM
	HGNC	4620	HGNC
	Ensembl	ENSG00000148180	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
Benign	2024-01-31	criteria provided, single submitter	not provided	germline	Detail
Benign	2018-01-12	criteria provided, single submitter	Finnish type amyloidosis	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.011	amyloidosis	The present study demonstrates the first successful in vitro creation of amyloid...	BeFree	1311922	Detail
0.007	Amyloidosis, Familial	Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of...	BeFree	1652889	Detail
0.002	Amyloidosis, Hereditary	Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrop...	BeFree	1319113	Detail
<0.001	Familial Amyloid Polyneuropathy, Type IV	Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis,...	BeFree	7868127	Detail
0.011	amyloidosis	Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidos...	BeFree	10744159	Detail
<0.001	Familial Amyloid Polyneuropathy, Type V	Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrop...	BeFree	1319113	Detail
<0.001	Familial Amyloid Polyneuropathy, Type IV	Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis,...	BeFree	7868127	Detail
0.007	Familial Amyloid Polyneuropathy, Type IV	Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis,...	BeFree	7868127	Detail
<0.001	Neurodegenerative Disorders	Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domai...	BeFree	14596804	Detail
0.011	amyloidosis	The gelsolin fragments isolated from at least one patient with amyloidosis have ...	BeFree	1652889	Detail
<0.001	Familial Amyloid Polyneuropathy, Type IV	Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis,...	BeFree	7868127	Detail

Annotation

Annotations

Descrption	Source	Links
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) AND not provided	ClinVar	Detail
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) AND Finnish type amyloidosis	ClinVar	Detail
The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from A...	DisGeNET	Detail
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the d...	DisGeNET	Detail
Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to...	DisGeNET	Detail
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP I...	DisGeNET	Detail
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.	DisGeNET	Detail
Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to...	DisGeNET	Detail
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP I...	DisGeNET	Detail
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP I...	DisGeNET	Detail
Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-mod...	DisGeNET	Detail
The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to hav...	DisGeNET	Detail
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP I...	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: rs11550199 dbSNP
Genome: hg19
Position: chr9:124,074,641-124,074,641
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8638
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): 121126
Allele Counts in All Race (ExAC): 461
Heterozygous Counts in All Race (ExAC): 439
Homozygous Counts in All Race (ExAC): 11
Allele Frequency in All Race (ExAC): 0.003805954130409656

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