ClinVar

NM_001127392.3(MYRF):c.46+2697G>T

Genes:

MYRF-AS1:MYRF antisense RNA 1 [Gene - HGNC]
MYRF:myelin regulatory factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q12.2

Genomic location:

• Chr11: 61755487 (on Assembly GRCh38)
• Chr11: 61522959 (on Assembly GRCh37)

Preferred name:

NM_001127392.3(MYRF):c.46+2697G>T

HGVS:

• NC_000011.10:g.61755487G>T
• NG_047038.1:g.7851G>T
• NM_001127392.3:c.46+2697G>TMANE SELECT
• NM_013279.4:c.19+45G>T
• NC_000011.9:g.61522959G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2286008

NCBI 1000 Genomes Browser:

rs2286008

Molecular consequence:

• NM_001127392.3:c.46+2697G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_013279.4:c.19+45G>T - intron variant - [Sequence Ontology: SO:0001627]