| Variant ID | 1418 |
|---|---|
| Entrez Gene ID | 22798 |
| Gene | LAMB4 (GeneCards) |
| Location | hg19 7:107743602-107743602
hg38 7:108103157-108103157 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.107743602_107743602 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 356 |
| Amino acid changes in protein | G > E |
| Position in cDNA | 1067 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001318047.1 |
| mRNA length | 3743 |
| Reference length | 159138663 |
| Deleterious probability by DeFine | 0.8967 (Deleterious) |
|---|
| Entrez Gene ID | 22798 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LAMB4 (GeneCards) |
| Number of variants in LAMB4 in this database | 2 (view all the variants) |
| Full name | laminin subunit beta 4 |
| Band | 7q31.1 |
| Other IDs | Vega: OTTHUMG00000154874 OMIM: 616380 HGNC: HGNC:6491 Ensembl: ENSG00000091128 |
| Other names | None |
| Summary | None |
| Individual ID | 28699658.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |