ClinVar

NM_001145543.2(ZSCAN18):c.471G>A (p.Met157Ile)

Gene:

ZSCAN18:zinc finger and SCAN domain containing 18 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.43

Genomic location:

• Chr19: 58088770 (on Assembly GRCh38)
• Chr19: 58600137 (on Assembly GRCh37)

Preferred name:

NM_001145543.2(ZSCAN18):c.471G>A (p.Met157Ile)

HGVS:

• NC_000019.10:g.58088770C>T
• NM_001145542.1:c.639G>A
• NM_001145543.2:c.471G>AMANE SELECT
• NM_001145544.2:c.66G>A
• NM_023926.5:c.471G>A
• NP_001139014.1:p.Met213Ile
• NP_001139015.1:p.Met157Ile
• NP_001139016.1:p.Met22Ile
• NP_076415.3:p.Met157Ile
• NC_000019.9:g.58600137C>T

This HGVS expression did not pass validation

Protein change:

M157I

Molecular consequence:

• NM_001145542.1:c.639G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145543.2:c.471G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145544.2:c.66G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023926.5:c.471G>A - missense variant - [Sequence Ontology: SO:0001583]