chr14:95107680:C>G Detail (hg38) (DICER1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:95,574,017-95,574,017 View the variant detail on this assembly version. |
hg38 | chr14:95,107,680-95,107,680 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_177438.2:c.2732G>C | NP_803187.1:p.Ser911Thr |
NM_001291628.1:c.2732G>C | NP_001278557.1:p.Ser911Thr | |
NM_030621.4:c.2732G>C | NP_085124.2:p.Ser911Thr |
Summary
MGeND
Clinical significance |
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Variant entry | 6 |
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
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2020/10/07 | bone and articular cartilage, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/10/07 | thyroid gland |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/10/07 | carcinoma in situ of breast, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/10/07 | li-fraumeni syndrome |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/10/07 | breast, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/10/07 | cortex of adrenal gland |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-05-05 | criteria provided, single submitter | DICER1-related tumor predisposition |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_177438.3(DICER1):c.2732G>C (p.Ser911Thr) AND DICER1-related tumor predisposition | 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
- -
- Genome
- hg38
- Position
- chr14:95,107,680-95,107,680
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser