ClinVar

NM_000298.6(PKLR):c.966-7C>T

Gene:

PKLR:pyruvate kinase L/R [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155294392 (on Assembly GRCh38)
• Chr1: 155264183 (on Assembly GRCh37)

Preferred name:

NM_000298.6(PKLR):c.966-7C>T

HGVS:

• NC_000001.11:g.155294392G>A
• NG_011677.1:g.12043C>T
• NG_092320.1:g.386G>A
• NM_000298.6:c.966-7C>TMANE SELECT
• NM_181871.4:c.873-7C>T
• LRG_1136t1:c.966-7C>T
• LRG_1136:g.12043C>T
• NC_000001.10:g.155264183G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000298.6:c.966-7C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181871.4:c.873-7C>T - intron variant - [Sequence Ontology: SO:0001627]