TTN c.28462+1G>T

Variant ID: 2-179575361-C-A

NM_001267550.1(TTN):c.28462+1G>T

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine
Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS
Publication Date: 2021-10-13

Variant appearance in text: TTN: 28462+1G>T
PubMed Link: 34645488
Variant Present in the following documents:
  • Main text
  • 13073_2021_973_MOESM1_ESM.xlsx, sheet 1
  • 13073_2021_Article_973.pdf
  • 13073_2021_973_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page


Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Genome Medicine
Shamseldin, Hanan E HE; AlAbdi, Lama L; Maddirevula, Sateesh S; Alsaif, Hessa S HS; Alzahrani, Fatema F; Ewida, Nour N; Hashem, Mais M; Abdulwahab, Firdous F; Abuyousef, Omar O; Kuwahara, Hiroyuki H; Gao, Xin X; , ; Alkuraya, Fowzan S FS
Publication Date: 2021-10-13

Variant appearance in text: TTN: 28462+1G>T
PubMed Link: 34645488
Variant Present in the following documents:
  • Main text
  • 13073_2021_973_MOESM1_ESM.xlsx, sheet 1
  • 13073_2021_Article_973.pdf
  • 13073_2021_973_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page


Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Genome Biology
Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS
Publication Date: 2020-06-17

Variant appearance in text: TTN: 28462+1G>T
PubMed Link: 32552793
Variant Present in the following documents:
  • 13059_2020_2053_MOESM2_ESM.xlsx, sheet 1
  • 13059_2020_2053_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page