ClinVar

NM_001354768.3(NRL):c.287T>C (p.Met96Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 24082562 (on Assembly GRCh38)
• Chr14: 24551771 (on Assembly GRCh37)

Preferred name:

NM_001354768.3(NRL):c.287T>C (p.Met96Thr)

HGVS:

• NC_000014.9:g.24082562A>G
• NG_011697.2:g.37453T>C
• NM_001354768.3:c.287T>CMANE SELECT
• NM_001354769.1:c.287T>C
• NM_001354770.2:c.66+221T>C
• NM_006177.5:c.287T>C
• NP_001341697.1:p.Met96Thr
• NP_001341698.1:p.Met96Thr
• NP_006168.1:p.Met96Thr
• NC_000014.8:g.24551771A>G
• NM_006177.3:c.287T>C

This HGVS expression did not pass validation

Protein change:

M96T; MET96THR

Links:

OMIM: 162080.0004; dbSNP: rs397514516

NCBI 1000 Genomes Browser:

rs397514516

Molecular consequence:

• NM_001354770.2:c.66+221T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354768.3:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354769.1:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006177.5:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]