ClinVar

NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)

Gene:

SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 179833601 (on Assembly GRCh38)
• Chr5: 179260601 (on Assembly GRCh37)

Preferred name:

NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)

HGVS:

• NC_000005.10:g.179833601G>A
• NG_011342.1:g.32214G>A
• NM_001142298.2:c.732G>A
• NM_001142299.2:c.732G>A
• NM_003900.5:c.984G>AMANE SELECT
• NP_001135770.1:p.Ser244=
• NP_001135771.1:p.Ser244=
• NP_003891.1:p.Ser328=
• NC_000005.9:g.179260601G>A
• NM_003900.4:c.984G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs146164139

NCBI 1000 Genomes Browser:

rs146164139

Molecular consequence:

• NM_001142298.2:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142299.2:c.732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003900.5:c.984G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

12