chr9:126693589:C>T Detail (hg38) (LMX1B)

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

Genome

Assembly	Position
hg19	chr9:129,455,868-129,455,868 View the variant detail on this assembly version.
hg38	chr9:126,693,589-126,693,589

HGVS

LMX1B

Type	Transcript	Protein
RefSeq	NM_001174146.1:c.807C>T	NP_001167617.1:p.Asn269=
	NM_001174147.1:c.807C>T	NP_001167618.1:p.Asn269=
	NM_002316.3:c.807C>T	NP_002307.2:p.Asn269=
Ensemble	ENST00000355497.10:c.807C>T	ENST00000355497.10:p.Asn269=
	ENST00000373474.9:c.807C>T	ENST00000373474.9:p.Asn269=
	ENST00000526117.6:c.807C>T	ENST00000526117.6:p.Asn269=

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	Likely benign
Review star
Show details

Links

LMX1B

Type	Database	ID	Link
Gene	MIM	602575	OMIM
	HGNC	6654	HGNC
	Ensembl	ENSG00000136944	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
Likely benign	2023-06-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.592	nail-patella syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001174147.2(LMX1B):c.807C>T (p.Asn269=) AND not provided	ClinVar	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: -
Genome: hg38
Position: chr9:126,693,589-126,693,589
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8626
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): 120504
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.298479718515568E-6

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