Variant #0001026952 (NC_000017.10:g.42979916C>G, NM_002055.4:c.*4799G>C (GFAP))

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42979916C>G
DNA change (hg38) -
Published as CCDC103(NM_001258395.1):c.460C>G (p.(His154Asp))
ISCN -
DB-ID EFTUD2_000157
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-02-07 18:57:27 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GFAP NM_002055.4 ?/. - c.*4799G>C r.(=) p.(=)
EFTUD2 NM_004247.3 ?/. - c.-3184G>C r.(?) p.(=)
CCDC103 NM_213607.2 ?/. - c.460C>G r.(?) p.(His154Asp)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.