ClinVar

NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 42417865 (on Assembly GRCh38)
• Chr8: 42275383 (on Assembly GRCh37)

Preferred name:

NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser)

HGVS:

• NC_000008.11:g.42417865C>A
• NG_032161.1:g.126974G>T
• NM_001257180.2:c.1897G>TMANE SELECT
• NM_001257181.2:c.1897G>T
• NM_006749.5:c.1897G>T
• NP_001244109.1:p.Ala633Ser
• NP_001244110.1:p.Ala633Ser
• NP_006740.1:p.Ala633Ser
• NC_000008.10:g.42275383C>A
• NM_006749.4:c.1897G>T

This HGVS expression did not pass validation

Protein change:

A633S

Links:

dbSNP: rs147025172

NCBI 1000 Genomes Browser:

rs147025172

Molecular consequence:

• NM_001257180.2:c.1897G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257181.2:c.1897G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006749.5:c.1897G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1