ClinVar

NM_004563.4(PCK2):c.1468+2T>C

Genes:

NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 24103257 (on Assembly GRCh38)
• Chr14: 24572466 (on Assembly GRCh37)

Preferred name:

NM_004563.4(PCK2):c.1468+2T>C

HGVS:

• NC_000014.9:g.24103257T>C
• NG_008162.2:g.13984T>C
• NG_011697.2:g.16758A>G
• NM_001291556.2:c.1066+2T>C
• NM_001308054.2:c.1066+2T>C
• NM_001354768.3:c.-28+11465A>GMANE SELECT
• NM_001354770.2:c.-28+11465A>G
• NM_004563.4:c.1468+2T>CMANE SELECT
• NM_006177.5:c.-254+11465A>G
• NC_000014.8:g.24572466T>C
• NM_004563.2:c.1468+2T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs148019349

NCBI 1000 Genomes Browser:

rs148019349

Molecular consequence:

• NM_001354768.3:c.-28+11465A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354770.2:c.-28+11465A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_006177.5:c.-254+11465A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001291556.2:c.1066+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001308054.2:c.1066+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_004563.4:c.1468+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]