ClinVar

NM_004738.5(VAPB):c.-198GCCCTC[3]

Genes:

LOC130066253:ATAC-STARR-seq lymphoblastoid silent region 13072 [Gene]
VAPB:VAMP associated protein B and C [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58389257 - 58389258 (on Assembly GRCh38)
• Chr20: 56964313 - 56964314 (on Assembly GRCh37)

Preferred name:

NM_004738.5(VAPB):c.-198GCCCTC[3]

HGVS:

• NC_000020.11:g.58389262GCCCTC[3]
• NG_008073.2:g.5074GCCCTC[3]
• NM_001195677.2:c.-198GCCCTC[3]
• NM_004738.5:c.-198GCCCTC[3]MANE SELECT
• LRG_656:g.5074GCCCTC[3]
• NC_000020.10:g.56964318GCCCTC[3]
• NM_004738.4:c.-192_-187dupGCCCTC
• NR_036633.2:n.34GCCCTC[3]

This HGVS expression did not pass validation

Links:

dbSNP: rs765965868

NCBI 1000 Genomes Browser:

rs765965868

Molecular consequence:

• NM_001195677.2:c.-198GCCCTC[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_004738.5:c.-198GCCCTC[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_036633.2:n.34GCCCTC[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]