chr10:110964877:G>A Detail (hg38) (SHOC2)
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
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 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-08 | criteria provided, single submitter | Noonan syndrome-like disorder with loose anagen hair 1 |
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Detail |
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2017-04-03 | reviewed by expert panel | RASopathy |
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Detail |
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2021-10-04 | criteria provided, single submitter | not provided |
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Detail |
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2020-04-02 | criteria provided, single submitter | not specified |
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Detail |
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2020-01-09 | criteria provided, single submitter | Non-immune hydrops fetalis |
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Detail |
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2021-11-29 | criteria provided, single submitter |
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Detail | |
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2022-12-21 | criteria provided, single submitter |
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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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