ClinVar

NM_000298.6(PKLR):c.507+51T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155295386 (on Assembly GRCh38)
• Chr1: 155265177 (on Assembly GRCh37)

Preferred name:

NM_000298.6(PKLR):c.507+51T>C

HGVS:

• NC_000001.11:g.155295386A>G
• NG_011677.1:g.11049T>C
• NM_000298.6:c.507+51T>CMANE SELECT
• NM_181871.4:c.414+51T>C
• LRG_1136t1:c.507+51T>C
• LRG_1136:g.11049T>C
• NC_000001.10:g.155265177A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2071053

NCBI 1000 Genomes Browser:

rs2071053

Molecular consequence:

• NM_000298.6:c.507+51T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_181871.4:c.414+51T>C - intron variant - [Sequence Ontology: SO:0001627]