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NM_004531.5(MOCS2):c.346_349del (p.Val116fs) AND Molybdenum cofactor deficiency, complementation group B

Significance: Pathogenic
ClinVar: RCV000006484

Variant: NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

Type: Variant
Allele: NM_004531.5(MOCS2):c.346_349del (p.Val116fs) 21149
Gene:
Type: Deletion
Location: Chr5: 52397217 - 52397220 - assembly GRCh37
Chr5: 53101387 - 53101390 - assembly GRCh38
References: dbSNP: 398122798
OMIM: 603708.0003
Illumina Clinical Services Laboratory,Illumina: 793893

Condition

Disease: Molybdenum cofactor deficiency, complementation group B

Citation

    In an Italian patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) found a 4-bp deletion, 533del4, of the MOCS2 gene in homozygous state. The deletion was located in exon 5.
PMID:10053004