Variant ID: 12-102590943-C-G

NM_002674.2(PMCH):c.256G>C;(p.Gly86Arg)

This variant was identified in 1 publication




Publications:


Hypothalamic Alterations in Neurodegenerative Diseases and Their Relation to Abnormal Energy Metabolism.

Frontiers In Molecular Neuroscience
P Vercruysse, D Vieau, D Blum, Å Petersén, L Dupuis
Publication Date: 2018

Variant appearance in text: MCH: G86R
PubMed Link: 29403354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000327680.2 c.*874C>G - 3_prime_UTR_variant 12/12 -
ENST00000329406.4 c.256G>C p.Gly86Arg missense_variant 2/3 -
ENST00000378128.3 c.*1142C>G - 3_prime_UTR_variant 7/7 -
ENST00000412715.2 c.*1142C>G - 3_prime_UTR_variant 6/6 -
ENST00000417507.2 c.*1206C>G - 3_prime_UTR_variant 7/7 -
ENST00000457614.2 c.*1928C>G - 3_prime_UTR_variant,NMD_transcript_variant 8/8 -
ENST00000535811.1 n.1269C>G - non_coding_transcript_exon_variant 2/2 -
NM_001319988.1 c.*874C>G - 3_prime_UTR_variant 12/12 -
NM_001319993.1 c.*874C>G - 3_prime_UTR_variant 12/12 -
NM_001319994.1 c.*874C>G - 3_prime_UTR_variant 11/11 -
NM_002674.4 c.256G>C p.Gly86Arg missense_variant 2/3 -
NM_017915.4 c.*874C>G - 3_prime_UTR_variant 11/11 -
NR_135123.1 n.1813C>G - non_coding_transcript_exon_variant 5/5 -