ClinVar

NM_000112.4(SLC26A2):c.1798T>C (p.Tyr600His)

Gene:

SLC26A2:solute carrier family 26 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 149981391 (on Assembly GRCh38)
• Chr5: 149360954 (on Assembly GRCh37)

Preferred name:

NM_000112.4(SLC26A2):c.1798T>C (p.Tyr600His)

HGVS:

• NC_000005.10:g.149981391T>C
• NG_007147.2:g.22509T>C
• NM_000112.4:c.1798T>CMANE SELECT
• NP_000103.2:p.Tyr600His
• NP_000103.2:p.Tyr600His
• LRG_684t1:c.1798T>C
• LRG_684:g.22509T>C
• LRG_684p1:p.Tyr600His
• NC_000005.9:g.149360954T>C
• NM_000112.3:c.1798T>C

This HGVS expression did not pass validation

Protein change:

Y600H

Links:

dbSNP: rs387907492

NCBI 1000 Genomes Browser:

rs387907492

Molecular consequence:

• NM_000112.4:c.1798T>C - missense variant - [Sequence Ontology: SO:0001583]