GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 Detail (hg38) (BCL9, FMO5, GJA5, GJA8, PDZK1, PRKAB2, RNVU1-2A, TRN-GTT2-7, ITGA10, PEX11B, CHD1L, PDE4DIP, RBM8A, PIAS3, POLR3C, TXNIP, CD160, NBPF14, RNVU1-18, RNVU1-7, RNF115, ACP6, GPR89B, POLR3GL, LIX1L, HJV, ANKRD35, NBPF12, NBPF11, NUDT17, LINC02806, NBPF15, ANKRD34A, NOTCH2NLA, LINC01138, LINC02591, NBPF9, NUDT4B, H3-7, FAM72C, PPIAL4G, PPIAL4D, SRGAP2B, GPR89A, FAM72D, PPIAL4F, PPIAL4E, TRN-GTT6-1, NBPF10, TRH-GTG1-1, TRQ-CTG7-1, TRN-GTT2-1, TRQ-CTG4-1, TRG-TCC2-1, TRN-GTT2-8, TRQ-CTG3-2, TRV-CAC8-1, TRH-GTG1-4, TRN-GTT9-2, TRK-CTT2-1, TRQ-CTG4-2, TRH-GTG1-3, TRN-GTT3-1, TRV-CAC4-1, TRH-GTG1-2, TRH-GTG2-1, TRN-GTT12-1, TRE-CTC1-1, NBPF20, HYDIN2, LINC00624, LINC02805, MIR5087, LOC100996740, NOTCH2NLB, RNVU1-8, LOC101927468, LINC01719, RNVU1-14, RNVU1-15, RNVU1-17, RNVU1-3, RNVU1-1, RNVU1-6, MIR6736, MIR6077, LINC01145, LOC105371215, LINC01731, PPIAL4H, LIX1L-AS1, LOC106783502, TRN-GTT9-1, TRN-GTT10-1, TRQ-CTG3-1, TRN-GTT24-1, LOC108254679, LOC110121261, LOC111556113, LOC112577490, LOC113939979, LOC120893158, LOC121725051, LOC121725052, LOC121725053, LOC122094913, LOC122128410, LOC122128414, LOC122128415, LOC122128417, LOC122128418, LOC122128419, LOC122128420, RNVU1-28, RNVU1-31, RNVU1-27, RNVU1-26, LOC126088083, LOC126088084, LOC126805849, LOC126805850, LOC126805851, LOC126805852, LOC126805853, LOC126805854, LOC128071544, LOC129388601, LOC129388602, LOC129388603, LOC129388604, LOC129931319, LOC129931320, LOC129931321, LOC129931322, LOC129931323, LOC129931324, LOC129931325, LOC129931326, LOC129931327, LOC129931328, LOC129931329, LOC129931330, LOC129931331, LOC129931332, LOC129931333, LOC129931334, LOC129931335, LOC129931336, LOC129931337, LOC129931338, LOC129931339, LOC129931340, LOC129931341, LOC129931342, LOC129931343, LOC129931344, LOC129931345, LOC129931346, LOC129931347, LOC129931348, LOC129931349, LOC129931350, LOC129931351, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, LOC129931364, LOC129931365, LOC129931366, LOC129931367, LOC129931368)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | |
| hg38 | chr1:143,515,074-149,076,087 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | |||
| NCBI | |||
| Gene Cards | |||
| OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2012-01-13 | no assertion criteria provided |
paternal
|
Detail | |
|
Pathogenic
|
2010-10-19 | no assertion criteria provided |
not provided
|
Detail | |
|
Pathogenic
|
2012-08-13 | no assertion criteria provided |
not provided
|
Detail | |
|
Pathogenic
|
2013-02-06 | no assertion criteria provided |
de novo
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 AND See cases | ClinVar | Detail |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 AND See cases | ClinVar | Detail |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 AND See cases | ClinVar | Detail |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 AND See cases | 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
- chr1:143,515,074-149,076,087
- Variant Type
- cnv
Genome browser