ClinVar

NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)

Gene:

AP4S1:adaptor related protein complex 4 subunit sigma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

• Chr14: 31066213 (on Assembly GRCh38)
• Chr14: 31535419 (on Assembly GRCh37)

Preferred name:

NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro)

HGVS:

• NC_000014.9:g.31066213T>C
• NG_031913.1:g.46108T>C
• NM_001128126.3:c.17T>CMANE SELECT
• NM_001254726.2:c.17T>C
• NM_001254727.2:c.17T>C
• NM_001254728.2:c.17T>C
• NM_001254729.2:c.17T>C
• NM_007077.5:c.17T>C
• NP_001121598.1:p.Leu6Pro
• NP_001241655.1:p.Leu6Pro
• NP_001241656.1:p.Leu6Pro
• NP_001241657.1:p.Leu6Pro
• NP_001241658.1:p.Leu6Pro
• NP_009008.2:p.Leu6Pro
• NC_000014.8:g.31535419T>C
• NM_007077.3:c.17T>C
• NM_007077.4:c.17T>C

This HGVS expression did not pass validation

Protein change:

L6P

Links:

dbSNP: rs1335804396

NCBI 1000 Genomes Browser:

rs1335804396

Molecular consequence:

• NM_001128126.3:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254726.2:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254727.2:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254728.2:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001254729.2:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007077.5:c.17T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1