Gene entry
GPHN
gephyrin
- Chromosome
- 14
- Cytoband
- 14q23.3-q24.1
- Variants (rsID)
- 51
GPHN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q23.3-q24.1). Its official name is “gephyrin”. The reference table lists 51 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs74939746Benignsingle nucleotide variantSulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- rs142608987Likely benignsingle nucleotide variantSulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Other listed variants
- rs1955611
- rs3784077
- rs7141519
- rs7150227
- rs7152601
- rs8015958
- rs8020095
- rs10147954
- rs10148212
- rs11623598
- rs11848862
- rs12323823
- rs12436898
- rs17103820
- rs17103853
- rs17827890
- rs28410937
- rs34259545
- rs56184700
- rs61989632
- rs72728640
- rs72728699
- rs75263581
- rs75536744
- rs75943330
- rs76984729
- rs77194571
- rs77552864
- rs77885247
- rs78409217
- rs79106691
- rs80078079
- rs80196013
- rs80217643
- rs111383157
- rs112574545
- rs112842525
- rs113759317
- rs116926149
- rs116976867
- rs117257353
- rs117384645
- rs117838638
- rs117846778
- rs117893361
- rs140021536
- rs144111630
- rs147968712
- rs183884025
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.