Variome:hg19-14
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hg19 chr16:16,243,423-16,317,328 'NM_001171.5:c.3421C>T' created: Thefferon 12:01, 17 December 2010 (UTC)
HGVS name: NM_001171.5:c.3421C>T
Position: chr16:16256935-16256935 -
Researcher ID: G-5235-2010
dbSNP rs#: N/A
dbSNP ss#: N/A
Phenotype: PXE
OMIM variant ID: N/A
Associated gene/locus: ABCC6
Comments: R1141X mutation
