current
PRDM16:c.872C>T (p.Pro291Leu) AND CARDIOMYOPATHY, DILATED, 1LL
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a patient with dilated cardiomyopathy (CMD1LL; see 615373) who underwent heart transplantation, Arndt et al. (2013) identified heterozygosity for a c.872C-T transition in exon 6 of the PRDM16 gene, resulting in a pro291-to-leu (P291L) substitution at a highly conserved residue in a zinc finger domain.
23768516
PRDM16:c.872C>T (p.Pro291Leu)
NM_022114.3:c.872C>T
NG_029576.1:g.338809C>T
NC_000001.10:g.3319550C>T
NP_071397.3:p.Pro291Leu
missense
P291L
PRO291LEU
1p36.3
PR domain containing 16
PRDM16
CARDIOMYOPATHY, DILATED, 1LL
CMD1LL
current
Pathogenic
germline
human
not provided
curation
In a patient with dilated cardiomyopathy (CMD1LL; see 615373) who underwent heart transplantation, Arndt et al. (2013) identified heterozygosity for a c.872C-T transition in exon 6 of the PRDM16 gene, resulting in a pro291-to-leu (P291L) substitution at a highly conserved residue in a zinc finger domain.
23768516
PRDM16, PRO291LEU
PRO291LEU
PRDM16
CARDIOMYOPATHY, DILATED, 1LL