chr10:110964362:A>G Detail (hg38) (SHOC2)

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

Genome

Assembly	Position
hg19	chr10:112,724,120-112,724,120 View the variant detail on this assembly version.
hg38	chr10:110,964,362-110,964,362

HGVS

SHOC2

Type	Transcript	Protein
RefSeq	NM_001269039.2:c.4A>G	NP_001255968.1:p.Ser2Gly
	NM_001324336.1:c.4A>G	NP_001311265.1:p.Ser2Gly
	NM_001324337.1:c.4A>G	NP_001311266.1:p.Ser2Gly
	NM_007373.3:c.4A>G	NP_031399.2:p.Ser2Gly
	NR_136749.1:c.4A>G
	NM_001269039.1:c.-242-36053A>G
Ensemble	ENST00000265277.10:c.4A>G	ENST00000265277.10:p.Ser2Gly
	ENST00000369452.9:c.4A>G	ENST00000369452.9:p.Ser2Gly
	ENST00000451838.2:c.-242-36053A>G
	ENST00000685059.1:c.4A>G	ENST00000685059.1:p.Ser2Gly
	ENST00000688928.1:c.4A>G	ENST00000688928.1:p.Ser2Gly
	ENST00000689118.1:c.4A>G	ENST00000689118.1:p.Ser2Gly
	ENST00000689300.1:c.4A>G	ENST00000689300.1:p.Ser2Gly
	ENST00000689997.1:c.-380-21266A>G
	ENST00000691369.1:c.4A>G	ENST00000691369.1:p.Ser2Gly
	ENST00000691441.1:c.4A>G	ENST00000691441.1:p.Ser2Gly
	ENST00000691903.1:c.4A>G	ENST00000691903.1:p.Ser2Gly
	ENST00000692776.1:c.4A>G	ENST00000692776.1:p.Ser2Gly

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	7
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

SHOC2

Type	Database	ID	Link
Gene	MIM	602775	OMIM
	HGNC	15454	HGNC
	Ensembl	ENSG00000108061	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM5989369	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		noonan syndrome-like disorder with loose anagen hair	unknown	MGS000073 (TMGS000145)	Kenjiro Kosaki	Keio University IRUD
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000073 (TMGS000145)	Kenjiro Kosaki	Keio University IRUD
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000073 (TMGS000155)	Kenjiro Kosaki	Keio University IRUD
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000001 (TMGS000162)	Kenjiro Kosaki	Keio University
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000083 (TMGS000166)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Keio University
Pathogenic		noonan syndrome-like disorder with loose anagen hair	germline	MGS000073 (TMGS000167)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2017-04-03	reviewed by expert panel	Noonan syndrome-like disorder with loose anagen hair 1	de novo germline unknown	Detail
Pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	RASopathy	germline unknown	Detail
Pathogenic	2015-01-26	criteria provided, multiple submitters, no conflicts	Noonan syndrome	germline	Detail
Pathogenic	2022-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2017-02-23	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2018-02-22	criteria provided, single submitter	Noonan syndrome-like disorder with loose anagen hair	germline	Detail
Pathogenic	2021-01-08	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail
Pathogenic	2022-03-30	criteria provided, single submitter	polycystic kidney disease 4	germline	Detail
Pathogenic		criteria provided, single submitter	Noonan syndrome-like disorder with loose anagen hair 1,Pectus excavatum	germline	Detail
Pathogenic		criteria provided, single submitter	Noonan syndrome-like disorder with loose anagen hair 1,Pectus excavatum	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Noonan syndrome-like disorder with loose anagen hair	NA	CLINVAR		Detail
0.002	Noonan-Like Syndrome With Loose Anagen Hair	Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a misse...	BeFree	24458596	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Noonan syndrome-like disorder with loose anagen hair 1	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND RASopathy	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Noonan syndrome	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND not provided	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Inborn genetic diseases	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Noonan syndrome-like disorder with loose anagen hair	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Polycystic kidney disease 4	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND multiple conditions	ClinVar	Detail
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A&gt...	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: rs267607048 dbSNP
Genome: hg38
Position: chr10:110,964,362-110,964,362
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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