ClinVar

NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)

Gene:

RUBCN:rubicon autophagy regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 197704608 (on Assembly GRCh38)
• Chr3: 197431479 (on Assembly GRCh37)

Preferred name:

NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)

HGVS:

• NC_000003.12:g.197704608G>A
• NG_034153.2:g.50092C>T
• NM_001145642.2:c.217C>T
• NM_001145642.5:c.217C>T
• NM_001346873.2:c.397C>T
• NM_014687.4:c.397C>TMANE SELECT
• NP_001139114.1:p.His73Tyr
• NP_001333802.1:p.His133Tyr
• NP_055502.1:p.His133Tyr
• LRG_1093t1:c.397C>T
• LRG_1093t2:c.217C>T
• LRG_1093t3:c.397C>T
• LRG_1093:g.50092C>T
• LRG_1093p1:p.His133Tyr
• LRG_1093p2:p.His73Tyr
• LRG_1093p3:p.His133Tyr
• NC_000003.11:g.197431479G>A
• NM_014687.4:c.397C>T

This HGVS expression did not pass validation

Protein change:

H133Y

Links:

dbSNP: rs201876836

NCBI 1000 Genomes Browser:

rs201876836

Molecular consequence:

• NM_001145642.5:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346873.2:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014687.4:c.397C>T - missense variant - [Sequence Ontology: SO:0001583]