Variant ID: 1-25890189-A-G

NM_015627.2(LDLRAP1):c.654A>G;(p.Thr218Thr)

This variant was identified in 3 publications




Publications:


Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs28969504
PubMed Link: 31227787
Variant Present in the following documents:
  • Main text
View BVdb publication page



Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Bmc Genomics
M Koko, MOE Abdallah, M Amin, M Ibrahim
Publication Date: 2018-01-15

Variant appearance in text: rs28969504
PubMed Link: 29334895
Variant Present in the following documents:
  • 12864_2018_4433_MOESM3_ESM.xls
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
JY Tung, AK Kiefer, M Mullins, U Francke, N Eriksson
Publication Date: 2013-11

Variant appearance in text: rs28969504
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.654A>G p.Thr218= synonymous_variant 7/9 -
ENST00000474283.1 n.65A>G - non_coding_transcript_exon_variant 1/3 -
ENST00000484476.1 n.376A>G - non_coding_transcript_exon_variant 2/4 -
ENST00000488127.1 n.1124A>G - non_coding_transcript_exon_variant 6/7 -
NM_015627.3 c.654A>G p.Thr218= synonymous_variant 7/9 -