chr20:58910418:TTTA> Detail (hg38) (GNAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:57,485,473-57,485,476 |
hg38 | chr20:58,910,418-58,910,421 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001077489.3:c.993+17_993+20delTTTA | |
NM_001309840.1:c.*941+17_*941+20delTTTA | ||
NM_001309861.1:c.*941+17_*941+20delTTTA |
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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2023-07-31 | criteria provided, single submitter | not provided |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
![]() |
Detail |
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2021-10-02 | criteria provided, single submitter | ACTH-independent macronodular adrenal hyperplasia 1,Pituitary adenoma 3, multiple types,pseudopseudohypoparathyroidism,Pseudohypoparathyroidism type 1C,Pseudohypoparathyroidism type I A,Pseudohypoparathyroidism type 1B,progressive osseous heteroplasia,McCune-Albright syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000516.7(GNAS):c.1038+17_1038+20del AND not provided | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
NM_000516.7(GNAS):c.1038+17_1038+20del AND multiple conditions | ClinVar | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs773644530 dbSNP
- Genome
- hg38
- Position
- chr20:58,910,418-58,910,421
- Variant Type
- snv
- Reference Allele
- TTTA
- Alternative Allele
- -
- East Asian Chromosome Counts (ExAC)
- 8614
- 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)
- 119632
- Allele Counts in All Race (ExAC)
- 78
- Heterozygous Counts in All Race (ExAC)
- 78
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.519994650260799E-4
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