ClinVar

NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu)

Gene:

ZKSCAN1:zinc finger with KRAB and SCAN domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

• Chr7: 100033959 (on Assembly GRCh38)
• Chr7: 99631582 (on Assembly GRCh37)

Preferred name:

NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu)

HGVS:

• NC_000007.14:g.100033959G>A
• NG_051950.1:g.23408G>A
• NM_001287054.3:c.1346G>A
• NM_001287055.3:c.815G>A
• NM_001346579.2:c.799+3584G>A
• NM_001346580.2:c.1346G>A
• NM_001346581.2:c.1454G>A
• NM_003439.4:c.1454G>AMANE SELECT
• NP_001273983.1:p.Gly449Glu
• NP_001273984.1:p.Gly272Glu
• NP_001333509.1:p.Gly449Glu
• NP_001333510.1:p.Gly485Glu
• NP_003430.1:p.Gly485Glu
• NC_000007.13:g.99631582G>A
• NM_003439.1:c.1454G>A
• NR_144477.2:n.1923G>A

This HGVS expression did not pass validation

Protein change:

G272E

Links:

dbSNP: rs193920886

NCBI 1000 Genomes Browser:

rs193920886

Molecular consequence:

• NM_001346579.2:c.799+3584G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287054.3:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287055.3:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346580.2:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346581.2:c.1454G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003439.4:c.1454G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144477.2:n.1923G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]