ClinVar

NM_016026.4(RDH11):c.454+2T>A

Genes:

GPHN:gephyrin [Gene - OMIM - HGNC]
RDH11:retinol dehydrogenase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.1

Genomic location:

• Chr14: 67691138 (on Assembly GRCh38)
• Chr14: 68157855 (on Assembly GRCh37)

Preferred name:

NM_016026.4(RDH11):c.454+2T>A

HGVS:

• NC_000014.9:g.67691138A>T
• NG_008875.2:g.1187993A>T
• NG_042282.1:g.9656T>A
• NM_001252650.2:c.454+2T>A
• NM_016026.4:c.454+2T>AMANE SELECT
• NC_000014.8:g.68157855A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1364619920

NCBI 1000 Genomes Browser:

rs1364619920

Molecular consequence:

• NM_001252650.2:c.454+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_016026.4:c.454+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]