ClinVar

NM_001354768.3(NRL):c.382-16C>T

Gene:

NRL:neural retina leucine zipper [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 24081584 (on Assembly GRCh38)
• Chr14: 24550793 (on Assembly GRCh37)

Preferred name:

NM_001354768.3(NRL):c.382-16C>T

HGVS:

• NC_000014.9:g.24081584G>A
• NG_011697.2:g.38431C>T
• NM_001354768.3:c.382-16C>TMANE SELECT
• NM_001354769.1:c.382-16C>T
• NM_001354770.2:c.67-16C>T
• NM_006177.5:c.382-16C>T
• NC_000014.8:g.24550793G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354768.3:c.382-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354769.1:c.382-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354770.2:c.67-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006177.5:c.382-16C>T - intron variant - [Sequence Ontology: SO:0001627]