ClinVar

NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)

Genes:

LOC130055445:ATAC-STARR-seq lymphoblastoid silent region 5650 [Gene]
AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]
STRN3:striatin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 31026056 (on Assembly GRCh38)
• Chr14: 31495262 (on Assembly GRCh37)

Preferred name:

NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)

HGVS:

• NC_000014.9:g.31026056G>A
• NG_031913.1:g.5951G>A
• NG_189866.1:g.239G>A
• NM_001083893.2:c.130C>TMANE SELECT
• NM_001128126.3:c.-72+269G>AMANE SELECT
• NM_001254726.2:c.-72+269G>A
• NM_001254727.2:c.-72+269G>A
• NM_001254729.2:c.-72+758G>A
• NM_007077.5:c.-72+269G>A
• NM_014574.4:c.130C>T
• NP_001077362.1:p.Pro44Ser
• NP_055389.3:p.Pro44Ser
• NC_000014.8:g.31495262G>A
• NM_001083893.1:c.130C>T

This HGVS expression did not pass validation

Protein change:

P44S

Molecular consequence:

• NM_001128126.3:c.-72+269G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001254726.2:c.-72+269G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001254727.2:c.-72+269G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001254729.2:c.-72+758G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_007077.5:c.-72+269G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083893.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014574.4:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]