ClinVar

NM_004130.4(GYG1):c.608+219G>T

Gene:

GYG1:glycogenin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 149009621 (on Assembly GRCh38)
• Chr3: 148727408 (on Assembly GRCh37)

Preferred name:

NM_004130.4(GYG1):c.608+219G>T

HGVS:

• NC_000003.12:g.149009621G>T
• NG_027677.1:g.23214G>T
• NM_001184720.2:c.608+219G>T
• NM_001184721.2:c.608+219G>T
• NM_004130.4:c.608+219G>TMANE SELECT
• NC_000003.11:g.148727408G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs183245439

NCBI 1000 Genomes Browser:

rs183245439

Molecular consequence:

• NM_001184720.2:c.608+219G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001184721.2:c.608+219G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004130.4:c.608+219G>T - intron variant - [Sequence Ontology: SO:0001627]