ClinVar

NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)

Gene:

UMOD:uromodulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

• Chr16: 20348534 (on Assembly GRCh38)
• Chr16: 20359856 (on Assembly GRCh37)

Preferred name:

NM_003361.4(UMOD):c.767G>C (p.Cys256Ser)

HGVS:

• NC_000016.10:g.20348534C>G
• NG_008151.1:g.9182G>C
• NM_001008389.3:c.767G>C
• NM_001278614.2:c.866G>C
• NM_001378232.1:c.767G>C
• NM_001378233.1:c.767G>C
• NM_001378234.1:c.767G>C
• NM_001378235.1:c.767G>C
• NM_001378237.1:c.767G>C
• NM_003361.4:c.767G>CMANE SELECT
• NP_001008390.1:p.Cys256Ser
• NP_001265543.1:p.Cys289Ser
• NP_001365161.1:p.Cys256Ser
• NP_001365162.1:p.Cys256Ser
• NP_001365163.1:p.Cys256Ser
• NP_001365164.1:p.Cys256Ser
• NP_001365166.1:p.Cys256Ser
• NP_003352.2:p.Cys256Ser
• NC_000016.9:g.20359856C>G
• NR_165456.1:n.992G>C

This HGVS expression did not pass validation

Protein change:

C256S

Molecular consequence:

• NM_001008389.3:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001278614.2:c.866G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378232.1:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378233.1:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378234.1:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378235.1:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378237.1:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003361.4:c.767G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_165456.1:n.992G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2