chr3:37017559:G>A Detail (hg38) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,059,050-37,059,050 View the variant detail on this assembly version. |
hg38 | chr3:37,017,559-37,017,559 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.844G>A | NP_000240.1:p.Ala282Thr |
NM_001167617.1:c.550G>A | NP_001161089.1:p.Ala184Thr | |
NM_001167618.1:c.121G>A | NP_001161090.1:p.Ala41Thr |
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 |
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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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2024-01-16 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2023-06-30 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
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Detail |
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2018-10-31 | criteria provided, single submitter | Mismatch repair cancer syndrome 1,Colorectal cancer, hereditary nonpolyposis, type 2,Muir-Torré syndrome |
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Detail |
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no assertion criteria provided | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr) AND not provided | 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
- rs774689817 dbSNP
- Genome
- hg38
- Position
- chr3:37,017,559-37,017,559
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121410
- 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)
- 8.236553825879253E-6
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