ClinVar

NM_203475.3(PORCN):c.169G>A (p.Val57Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48511327 (on Assembly GRCh38)
• ChrX: 48369715 (on Assembly GRCh37)

Preferred name:

NM_203475.3(PORCN):c.169G>A (p.Val57Met)

HGVS:

• NC_000023.11:g.48511327G>A
• NG_009278.1:g.7345G>A
• NM_001282167.2:c.-6-39G>A
• NM_022825.4:c.169G>A
• NM_203473.3:c.169G>A
• NM_203474.1:c.169G>A
• NM_203475.3:c.169G>AMANE SELECT
• NP_073736.2:p.Val57Met
• NP_982299.1:p.Val57Met
• NP_982300.1:p.Val57Met
• NP_982301.1:p.Val57Met
• NC_000023.10:g.48369715G>A

This HGVS expression did not pass validation

Protein change:

V57M

Links:

dbSNP: rs781906860

NCBI 1000 Genomes Browser:

rs781906860

Molecular consequence:

• NM_001282167.2:c.-6-39G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_022825.4:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203473.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203474.1:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203475.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]