ClinVar

NM_001257180.2(SLC20A2):c.1704G>A (p.Pro568=)

Gene:

SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 42430069 (on Assembly GRCh38)
• Chr8: 42287587 (on Assembly GRCh37)

Preferred name:

NM_001257180.2(SLC20A2):c.1704G>A (p.Pro568=)

HGVS:

• NC_000008.11:g.42430069C>T
• NG_032161.1:g.114770G>A
• NM_001257180.2:c.1704G>AMANE SELECT
• NM_001257181.2:c.1704G>A
• NM_006749.5:c.1704G>A
• NP_001244109.1:p.Pro568=
• NP_001244110.1:p.Pro568=
• NP_006740.1:p.Pro568=
• NC_000008.10:g.42287587C>T
• NM_006749.4:c.1704G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs372331061

NCBI 1000 Genomes Browser:

rs372331061

Molecular consequence:

• NM_001257180.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001257181.2:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006749.5:c.1704G>A - synonymous variant - [Sequence Ontology: SO:0001819]