ClinVar

NM_020774.4(MIB1):c.201C>T (p.Asp67=)

Genes:

LOC130062255:ATAC-STARR-seq lymphoblastoid silent region 9345 [Gene]
MIB1:MIB E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q11.2

Genomic location:

• Chr18: 21741784 (on Assembly GRCh38)
• Chr18: 19321745 (on Assembly GRCh37)

Preferred name:

NM_020774.4(MIB1):c.201C>T (p.Asp67=)

HGVS:

• NC_000018.10:g.21741784C>T
• NG_033272.2:g.41828C>T
• NM_020774.4:c.201C>TMANE SELECT
• NP_065825.1:p.Asp67=
• NP_065825.1:p.Asp67=
• LRG_759t1:c.201C>T
• LRG_759:g.41828C>T
• LRG_759p1:p.Asp67=
• NC_000018.9:g.19321745C>T
• NM_020774.2:c.201C>T
• NM_020774.3:c.201C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs758397095

NCBI 1000 Genomes Browser:

rs758397095

Molecular consequence:

• NM_020774.4:c.201C>T - synonymous variant - [Sequence Ontology: SO:0001819]