Gene Mutations
|
|
Records Return:
(4)
|
|
|
|
Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
MARVELD2 | 610572 | 610153 | 5q12.3-q14.1 | ARG500TER | 0004 | DEAFNESS, AUTOSOMAL RECESSIVE 49 | 2 |
MARVELD2 | 610572 | 610153 | 5q12.3-q14.1 | IVS3-1G>A | 0001 | DEAFNISS, AUTOSOMAL RECESSIVE 49 | 2 |
MARVELD2 | 610572 | 610153 | 5q12.3-q14.1 | IVS4+2delTGAG | 0002 | DEAFNESS, AUTOSOMAL RECESSIVE 49 | 2 |
MARVELD2 | 610572 | 610153 | 5q12.3-q14.1 | IVS4+2T>C | 0003 | DEAFNISS, AUTOSOMAL RECESSIVE 49 | 4 |
|
|
|