chrX:147912197:G>T Detail (hg38) (FMR1, LOC107032825)

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

Genome

Assembly	Position
hg19	chrX:146,993,715-146,993,715 View the variant detail on this assembly version.
hg38	chrX:147,912,197-147,912,197

HGVS

FMR1

Type	Transcript	Protein
RefSeq	NM_001185076.1:c.18G>T	NP_001172005.1:p.Val6=
	NR_033700.1:c.18G>T
	NM_001185075.1:c.18G>T	NP_001172004.1:p.Val6=
	NM_001185081.1:c.18G>T	NP_001172010.1:p.Val6=
	NR_033699.1:c.18G>T
	NM_002024.5:c.18G>T	NP_002015.1:p.Val6=
	NM_001185082.1:c.18G>T	NP_001172011.1:p.Val6=
Ensemble	ENST00000218200.12:c.18G>T	ENST00000218200.12:p.Val6=
	ENST00000334557.10:c.18G>T	ENST00000334557.10:p.Val6=
	ENST00000370470.5:c.18G>T	ENST00000370470.5:p.Val6=
	ENST00000370471.7:c.18G>T	ENST00000370471.7:p.Val6=
	ENST00000370475.9:c.18G>T	ENST00000370475.9:p.Val6=
	ENST00000370477.5:c.18G>T	ENST00000370477.5:p.Val6=
	ENST00000439526.6:c.18G>T	ENST00000439526.6:p.Val6=
	ENST00000440235.6:c.18G>T	ENST00000440235.6:p.Val6=
	ENST00000495717.6:c.18G>T	ENST00000495717.6:p.Val6=
	ENST00000616382.5:c.18G>T	ENST00000616382.5:p.Val6=
	ENST00000621447.1:c.18G>T	ENST00000621447.1:p.Val6=
	ENST00000621453.5:c.18G>T	ENST00000621453.5:p.Val6=
	ENST00000685491.1:c.18G>T	ENST00000685491.1:p.Val6=
	ENST00000686086.1:c.18G>T	ENST00000686086.1:p.Val6=
	ENST00000687593.1:c.18G>T	ENST00000687593.1:p.Val6=
	ENST00000690137.1:c.18G>T	ENST00000690137.1:p.Val6=
	ENST00000690216.1:c.18G>T	ENST00000690216.1:p.Val6=
	ENST00000691111.1:c.18G>T	ENST00000691111.1:p.Val6=
	ENST00000691214.1:c.18G>T	ENST00000691214.1:p.Val6=
	ENST00000692108.1:c.-340G>T
	ENST00000693512.1:c.18G>T	ENST00000693512.1:p.Val6=

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

FMR1

Type	Database	ID	Link
Gene	MIM	309550	OMIM
	HGNC	3775	HGNC
	Ensembl	ENSG00000102081	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv417261466	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2018-07-20	criteria provided, single submitter	not specified	germline	Detail
Benign	2015-09-08	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely benign	2021-08-17	criteria provided, single submitter	fragile X-associated tremor/ataxia syndrome,Premature ovarian failure 1,fragile X syndrome	unknown	Detail
Likely benign	2021-08-17	criteria provided, single submitter	fragile X-associated tremor/ataxia syndrome,Premature ovarian failure 1,fragile X syndrome	unknown	Detail
Likely benign	2021-08-17	criteria provided, single submitter	fragile X-associated tremor/ataxia syndrome,Premature ovarian failure 1,fragile X syndrome	unknown	Detail
Benign	2019-05-08	criteria provided, single submitter	FMR1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND not specified	ClinVar	Detail
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND Inborn genetic diseases	ClinVar	Detail
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND multiple conditions	ClinVar	Detail
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND multiple conditions	ClinVar	Detail
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND multiple conditions	ClinVar	Detail
NM_002024.6(FMR1):c.18G>T (p.Val6=) AND FMR1-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: rs111485627 dbSNP
Genome: hg38
Position: chrX:147,912,197-147,912,197
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 519
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): 15388
Allele Counts in All Race (ExAC): 121
Heterozygous Counts in All Race (ExAC): 92
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 0.007863270080582272
East Asian Hemizygous Counts (ExAC): 0
Hemizygous Counts in All Race (ExAC): 27

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