chr10:79793660:A>G Detail (hg19) (RPS24, LOC130004144)

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

Genome

Assembly	Position
hg19	chr10:79,793,660-79,793,660
hg38	chr10:78,033,902-78,033,902 View the variant detail on this assembly version.

HGVS

RPS24

Type	Transcript	Protein
RefSeq	NM_001142285.1:c.1A>G	NP_001135757.1:p.?
	NM_001026.4:c.1A>G	NP_001017.1:p.?
	NM_001142283.1:c.1A>G	NP_001135755.1:p.?
	NM_001142284.1:c.1A>G	NP_001135756.1:p.?
	NM_001142282.1:c.1A>G	NP_001135754.1:p.?
	NM_033022.3:c.1A>G	NP_148982.1:p.?
Ensemble	ENST00000440692.6:c.1A>G	ENST00000440692.6:p.?
	ENST00000464716.6:c.1A>G	ENST00000464716.6:p.?
	ENST00000372360.9:c.1A>G	ENST00000372360.9:p.?
	ENST00000435275.5:c.1A>G	ENST00000435275.5:p.?
	ENST00000360830.9:c.1A>G	ENST00000360830.9:p.?
	ENST00000613865.5:c.1A>G	ENST00000613865.5:p.?
	ENST00000645440.1:c.1A>G	ENST00000645440.1:p.?

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

RPS24

Type	Database	ID	Link
Gene	MIM	602412	OMIM
	HGNC	10411	HGNC
	Ensembl	ENSG00000138326	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-07-24	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2018-01-12	criteria provided, multiple submitters, no conflicts	Diamond-Blackfan anemia	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_033022.4(RPS24):c.1A>G (p.Met1Val) AND not provided	ClinVar	Detail
NM_033022.4(RPS24):c.1A>G (p.Met1Val) AND Diamond-Blackfan anemia	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: rs886039545 dbSNP
Genome: hg19
Position: chr10:79,793,660-79,793,660
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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