ClinVar

NM_014687.4(RUBCN):c.1938G>A (p.Ser646=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 197683349 (on Assembly GRCh38)
• Chr3: 197410220 (on Assembly GRCh37)

Preferred name:

NM_014687.4(RUBCN):c.1938G>A (p.Ser646=)

HGVS:

• NC_000003.12:g.197683349C>T
• NG_034153.2:g.71351G>A
• NM_001145642.5:c.1803G>A
• NM_001346873.2:c.2055G>A
• NM_014687.4:c.1938G>AMANE SELECT
• NP_001139114.1:p.Ser601=
• NP_001333802.1:p.Ser685=
• NP_055502.1:p.Ser646=
• LRG_1093t1:c.1938G>A
• LRG_1093t2:c.1803G>A
• LRG_1093t3:c.2055G>A
• LRG_1093:g.71351G>A
• LRG_1093p1:p.Ser646=
• LRG_1093p2:p.Ser601=
• LRG_1093p3:p.Ser685=
• NC_000003.11:g.197410220C>T
• NM_001145642.3:c.1803G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs773808587

NCBI 1000 Genomes Browser:

rs773808587

Molecular consequence:

• NM_001145642.5:c.1803G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346873.2:c.2055G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014687.4:c.1938G>A - synonymous variant - [Sequence Ontology: SO:0001819]