chr9:73213379:C>T Detail (hg19) (TRPM3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:73,213,379-73,213,379 |
| hg38 | chr9:70,598,463-70,598,463 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_024971.5:c.2545G>A | NP_079247.5:p.Val849Met |
| NM_206945.3:c.2545G>A | NP_996828.3:p.Val849Met | |
| NM_001007471.2:c.2968G>A | NP_001007472.2:p.Val990Met |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000167) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-05-01 | criteria provided, single submitter | not provided |
de novo
germline
|
Detail |
|
Pathogenic
|
2019-03-26 | no assertion criteria provided | Global developmental delay |
de novo
|
Detail |
|
Pathogenic
Likely pathogenic
|
2020-09-30 | criteria provided, multiple submitters, no conflicts | intellectual disability |
de novo
|
Detail |
|
Pathogenic
|
2020-11-16 | no assertion criteria provided | Mulibrey nanism syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-01-03 | criteria provided, single submitter | TRPM3-related disorder |
de novo
germline
|
Detail |
|
Pathogenic
|
2022-10-04 | criteria provided, single submitter | Autosomal dominant non-syndromic intellectual disability |
de novo
|
Detail |
|
Pathogenic
|
2022-01-18 | criteria provided, single submitter | Birk-Barel syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-05-03 | criteria provided, multiple submitters, no conflicts | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures |
de novo
germline
|
Detail |
|
Pathogenic
|
2024-01-24 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND not provided | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND multiple conditions | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Intellectual disability | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Mulibrey nanism syndrome | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND TRPM3-related disorder | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Autosomal dominant non-syndromic intellectual dis... | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Birk-Barel syndrome | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Neurodevelopmental disorder with hypotonia, dysmo... | ClinVar | Detail |
| NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) AND Inborn genetic diseases | 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
- rs1564493599 dbSNP
- Genome
- hg19
- Position
- chr9:73,213,379-73,213,379
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser