ClinVar

NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)

Gene:

MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7533771 (on Assembly GRCh38)
• Chr19: 7598657 (on Assembly GRCh37)

Preferred name:

NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)

HGVS:

• NC_000019.10:g.7533771G>A
• NG_013374.1:g.4620G>A
• NG_015806.1:g.16162G>A
• NM_020533.3:c.1719G>AMANE SELECT
• NP_065394.1:p.Glu573=
• NC_000019.9:g.7598657G>A
• NM_020533.2:c.1719G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201076545

NCBI 1000 Genomes Browser:

rs201076545

Molecular consequence:

• NM_020533.3:c.1719G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1