ClinVar

NM_203475.3(PORCN):c.329+1G>A

Gene:

PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48511488 (on Assembly GRCh38)
• ChrX: 48369876 (on Assembly GRCh37)

Preferred name:

NM_203475.3(PORCN):c.329+1G>A

HGVS:

• NC_000023.11:g.48511488G>A
• NG_009278.1:g.7506G>A
• NM_001282167.2:c.116+1G>A
• NM_022825.4:c.329+1G>A
• NM_203473.3:c.329+1G>A
• NM_203474.1:c.329+1G>A
• NM_203475.3:c.329+1G>AMANE SELECT
• NC_000023.10:g.48369876G>A
• NM_203475.2:c.329+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1602070594

NCBI 1000 Genomes Browser:

rs1602070594

Molecular consequence:

• NM_001282167.2:c.116+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_022825.4:c.329+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_203473.3:c.329+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_203474.1:c.329+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_203475.3:c.329+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]