ClinVar

NM_003361.4(UMOD):c.800G>T (p.Cys267Phe)

Gene:

UMOD:uromodulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

• Chr16: 20348501 (on Assembly GRCh38)
• Chr16: 20359823 (on Assembly GRCh37)

Preferred name:

NM_003361.4(UMOD):c.800G>T (p.Cys267Phe)

HGVS:

• NC_000016.10:g.20348501C>A
• NG_008151.1:g.9215G>T
• NM_001008389.3:c.800G>T
• NM_001278614.2:c.899G>T
• NM_001378232.1:c.800G>T
• NM_001378233.1:c.800G>T
• NM_001378234.1:c.800G>T
• NM_001378235.1:c.800G>T
• NM_001378237.1:c.800G>T
• NM_003361.4:c.800G>TMANE SELECT
• NP_001008390.1:p.Cys267Phe
• NP_001265543.1:p.Cys300Phe
• NP_001365161.1:p.Cys267Phe
• NP_001365162.1:p.Cys267Phe
• NP_001365163.1:p.Cys267Phe
• NP_001365164.1:p.Cys267Phe
• NP_001365166.1:p.Cys267Phe
• NP_003352.2:p.Cys267Phe
• NC_000016.9:g.20359823C>A
• NM_003361.3:c.800G>T
• NR_165456.1:n.1025G>T

This HGVS expression did not pass validation

Protein change:

C267F

Links:

dbSNP: rs2141674031

NCBI 1000 Genomes Browser:

rs2141674031

Molecular consequence:

• NM_001008389.3:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278614.2:c.899G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378232.1:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378233.1:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378234.1:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378235.1:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378237.1:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003361.4:c.800G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_165456.1:n.1025G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]