ClinVar

NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 24097052 (on Assembly GRCh38)
• Chr14: 24566261 (on Assembly GRCh37)

Preferred name:

NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)

HGVS:

• NC_000014.9:g.24097052G>A
• NG_008162.2:g.7779G>A
• NG_011697.2:g.22963C>T
• NM_001018073.3:c.190G>A
• NM_001291556.2:c.-127-1151G>A
• NM_001308054.2:c.-213G>A
• NM_001354768.3:c.-27-14177C>TMANE SELECT
• NM_001354770.2:c.-27-14177C>T
• NM_004563.4:c.190G>AMANE SELECT
• NM_006177.5:c.-253-12307C>T
• NP_001018083.2:p.Asp64Asn
• NP_004554.3:p.Asp64Asn
• NC_000014.8:g.24566261G>A
• NM_004563.3:c.190G>A

This HGVS expression did not pass validation

Protein change:

D64N

Links:

dbSNP: rs10132601

NCBI 1000 Genomes Browser:

rs10132601

Molecular consequence:

• NM_001308054.2:c.-213G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001291556.2:c.-127-1151G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354768.3:c.-27-14177C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354770.2:c.-27-14177C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006177.5:c.-253-12307C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018073.3:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004563.4:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]