chr11:94799669:C>T Detail (hg38) (AMOTL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:94,532,835-94,532,835 View the variant detail on this assembly version. |
| hg38 | chr11:94,799,669-94,799,669 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001301007.1:c.329C>T | NP_001287936.1:p.Pro110Leu |
| NM_130847.2:c.479C>T | NP_570899.1:p.Pro160Leu | |
| Ensemble | ENST00000317829.12:c.329C>T | ENST00000317829.12:p.Pro110Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2019-06-20 | criteria provided, single submitter | Cleft lip/palate,Hypertelorism,imperforate anus with fistula |
germline
|
Detail |
|
Likely pathogenic
|
2019-06-20 | criteria provided, single submitter | Cleft lip/palate,Hypertelorism,imperforate anus with fistula |
germline
|
Detail |
|
Likely pathogenic
|
2019-06-20 | criteria provided, single submitter | Cleft lip/palate,Hypertelorism,imperforate anus with fistula |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2023-07-08 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) AND multiple conditions | ClinVar | Detail |
| NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) AND multiple conditions | ClinVar | Detail |
| NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) AND multiple conditions | ClinVar | Detail |
| NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) 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
- rs1951433087 dbSNP
- Genome
- hg38
- Position
- chr11:94,799,669-94,799,669
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser