FH c.578C>T ;(p.T193I)

Variant ID: 1-241672063-G-A

NM_000143.3(FH):c.578C>T;(p.T193I)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Publication Date: 2022-02-03

Variant appearance in text: FH: 578C>T
PubMed Link: 34508573
Variant Present in the following documents:
  • Main text
  • ddab256.pdf
  • supp_table_1_ddab256.xlsx, sheet 1
View BVdb publication page


Systemic complement levels in patients with age-related macular degeneration carrying rare or low frequency variants in the CFH gene.

Human Molecular Genetics
de Jong, Sarah S; de Breuk, Anita A; Volokhina, Elena B EB; Bakker, Bjorn B; Garanto, Alejandro A; Fauser, Sascha S; Katti, Suresh S; Hoyng, Carel B CB; Lechanteur, Yara T E YTE; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI
Publication Date: 2021-09-11

Variant appearance in text: FH: 578C>T
PubMed Link: 34508573
Variant Present in the following documents:
  • Main text
  • ddab256.pdf
  • supp_table_1_ddab256.xlsx, sheet 1
View BVdb publication page


Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 578C>T; Thr193Ile
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page


Cutaneous leiomyomatosis in a mother and daughter.

Anais Brasileiros De Dermatologia
Lencastre, André A; Cabete, Joana J; Gonçalves, Rui R; João, Alexandre A; Fidalgo, Ana A
Publication Date: 2013

Variant appearance in text: FH: 578C>T; T193I
PubMed Link: 24346898
Variant Present in the following documents:
  • Main text
  • abd-88-06-s1-0124.pdf
View BVdb publication page