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NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg) AND Renal adysplasia

Significance: Pathogenic
ClinVar: RCV000114395

Variant: NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg)

Type: Variant
Allele: NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg) 132024
Gene:
Type: single nucleotide variant
Location: Chr10: 15644210 - assembly GRCh38
Chr10: 15686209 - assembly GRCh37
References: dbSNP: 374664941
OMIM: 604063.0003
UniProtKB: P53708#VAR_071107

Condition

Disease: Renal adysplasia

Citation

    For discussion of the gly407-to-arg (G407R) mutation in the ITGA8 gene that was found in compound heterozygous state in 2 sibs with bilateral renal hypodysplasia/aplasia-1 (RHDA1; 191830) by Humbert et al. (2014), see 604063.0002.
PMID:24439109