All transcript variants in gene LCT

Information The variants shown are described using the NM_002299.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A g.135851076G>A -13910C/T - MCM6_000001 predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 32/45 controls - 0 - Johan den Dunnen
+?/. _1 c.-13907C>T - r.(=) p.(=) g.136608646G>A g.135851076G>A -13910C/T - MCM6_000001 predicted to disrupt transcription factor AP-2 binding site, possible long-range cis-transcriptional effect on developmental stage–specific regulation LCT PubMed: Enattah 2002, OMIM:var0001 - rs4988235 Germline yes 13/45 controls - 0 - Johan den Dunnen
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