ClinVar

NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)

Gene:

SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 144416068 (on Assembly GRCh38)
• Chr8: 145641452 (on Assembly GRCh37)

Preferred name:

NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)

HGVS:

• NC_000008.11:g.144416068C>T
• NG_012234.2:g.5823G>A
• NM_001374839.1:c.192+530G>A
• NM_017767.3:c.141G>A
• NM_130849.4:c.216G>AMANE SELECT
• NP_060237.3:p.Leu47=
• NP_570901.3:p.Leu72=
• NC_000008.10:g.145641452C>T
• NM_130849.3:c.216G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs782722255

NCBI 1000 Genomes Browser:

rs782722255

Molecular consequence:

• NM_001374839.1:c.192+530G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_017767.3:c.141G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_130849.4:c.216G>A - synonymous variant - [Sequence Ontology: SO:0001819]