ClinVar

NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)

Gene:

SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 179833725 (on Assembly GRCh38)
• Chr5: 179260725 (on Assembly GRCh37)

Preferred name:

NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)

HGVS:

• NC_000005.10:g.179833725T>C
• NG_011342.1:g.32338T>C
• NM_001142298.2:c.856T>C
• NM_001142299.2:c.856T>C
• NM_003900.5:c.1108T>CMANE SELECT
• NP_001135770.1:p.Ser286Pro
• NP_001135771.1:p.Ser286Pro
• NP_003891.1:p.Ser370Pro
• NC_000005.9:g.179260725T>C
• NM_003900.4:c.1108T>C

This HGVS expression did not pass validation

Protein change:

S286P

Links:

dbSNP: rs143956614

NCBI 1000 Genomes Browser:

rs143956614

Molecular consequence:

• NM_001142298.2:c.856T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142299.2:c.856T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003900.5:c.1108T>C - missense variant - [Sequence Ontology: SO:0001583]