Variant ID: 3-197765509-G-A

NM_033029.3(LMLN):c.1939G>A;(p.Ala647Thr)

This variant was identified in 1 publication




Publications:


A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Archives Of Neurology
B Kurt, J Jaeken, J Van Hove, L Lagae, A Löfgren, DB Everman, P Jayakar, A Naini, KJ Wierenga, G Van Goethem, WC Copeland, S DiMauro
Publication Date: 2010-02

Variant appearance in text: Msp: A647T
PubMed Link: 20142534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000330198.4 c.1939G>A p.Ala647Thr missense_variant 16/16 -
ENST00000332636.5 c.1783G>A p.Ala595Thr missense_variant 16/16 -
ENST00000420910.2 c.2050G>A p.Ala684Thr missense_variant 17/17 -
ENST00000423460.1 n.225C>T - non_coding_transcript_exon_variant 3/3 -
ENST00000451139.2 n.2541G>A - non_coding_transcript_exon_variant 16/16 -
ENST00000482695.1 c.1894G>A p.Ala632Thr missense_variant 17/17 -
NM_001136049.2 c.2050G>A p.Ala684Thr missense_variant 17/17 -
NM_033029.3 c.1939G>A p.Ala647Thr missense_variant 16/16 -
NR_026786.2 n.1934G>A - non_coding_transcript_exon_variant 17/17 -
NR_026787.2 n.1823G>A - non_coding_transcript_exon_variant 16/16 -
NR_046669.1 n.234C>T - non_coding_transcript_exon_variant 4/4 -