chr10:110964877:G>A 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	chr10:112,724,635-112,724,635 View the variant detail on this assembly version.
hg38	chr10:110,964,877-110,964,877

HGVS

SHOC2

Type	Transcript	Protein
RefSeq	NM_001269039.2:c.519G>A	NP_001255968.1:p.Met173Ile
	NM_001324336.1:c.519G>A	NP_001311265.1:p.Met173Ile
	NM_001324337.1:c.519G>A	NP_001311266.1:p.Met173Ile
	NM_007373.3:c.519G>A	NP_031399.2:p.Met173Ile
	NR_136749.1:c.519G>A
	NM_001269039.1:c.-242-35538G>A
Ensemble	ENST00000265277.10:c.519G>A	ENST00000265277.10:p.Met173Ile
	ENST00000369452.9:c.519G>A	ENST00000369452.9:p.Met173Ile
	ENST00000451838.2:c.-242-35538G>A
	ENST00000685059.1:c.519G>A	ENST00000685059.1:p.Met173Ile
	ENST00000688928.1:c.519G>A	ENST00000688928.1:p.Met173Ile
	ENST00000689118.1:c.519G>A	ENST00000689118.1:p.Met173Ile
	ENST00000689300.1:c.519G>A	ENST00000689300.1:p.Met173Ile
	ENST00000689997.1:c.-380-20751G>A
	ENST00000691369.1:c.519G>A	ENST00000691369.1:p.Met173Ile
	ENST00000691441.1:c.519G>A	ENST00000691441.1:p.Met173Ile
	ENST00000691903.1:c.519G>A	ENST00000691903.1:p.Met173Ile
	ENST00000692776.1:c.519G>A	ENST00000692776.1:p.Met173Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2024-02-08	criteria provided, single submitter	Noonan syndrome-like disorder with loose anagen hair 1	germline	Detail
Uncertain significance	2017-04-03	reviewed by expert panel	RASopathy	germline	Detail
Likely pathogenic	2021-10-04	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2020-04-02	criteria provided, single submitter	not specified	germline	Detail
Likely pathogenic	2020-01-09	criteria provided, single submitter	Non-immune hydrops fetalis	de novo	Detail
Likely pathogenic	2021-11-29	criteria provided, single submitter		germline	Detail
Likely pathogenic	2022-12-21	criteria provided, single submitter		de novo	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

Annotation

Annotations

Descrption	Source	Links
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND Noonan syndrome-like disorder with loose anagen hair 1	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND RASopathy	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND not provided	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND not specified	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND Non-immune hydrops fetalis	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND Cardiovascular phenotype	ClinVar	Detail
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) AND See cases	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: -
dbSNP: rs730881020 dbSNP
Genome: hg38
Position: chr10:110,964,877-110,964,877
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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