ClinVar

NM_003361.4(UMOD):c.792G>A (p.Val264=)

Gene:

UMOD:uromodulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.3

Genomic location:

• Chr16: 20348509 (on Assembly GRCh38)
• Chr16: 20359831 (on Assembly GRCh37)

Preferred name:

NM_003361.4(UMOD):c.792G>A (p.Val264=)

HGVS:

• NC_000016.10:g.20348509C>T
• NG_008151.1:g.9207G>A
• NM_001008389.3:c.792G>A
• NM_001278614.2:c.891G>A
• NM_001378232.1:c.792G>A
• NM_001378233.1:c.792G>A
• NM_001378234.1:c.792G>A
• NM_001378235.1:c.792G>A
• NM_001378237.1:c.792G>A
• NM_003361.4:c.792G>AMANE SELECT
• NP_001008390.1:p.Val264=
• NP_001265543.1:p.Val297=
• NP_001365161.1:p.Val264=
• NP_001365162.1:p.Val264=
• NP_001365163.1:p.Val264=
• NP_001365164.1:p.Val264=
• NP_001365166.1:p.Val264=
• NP_003352.2:p.Val264=
• NP_003352.2:p.Val264=
• NC_000016.9:g.20359831C>T
• NM_003361.2:c.792G>A
• NM_003361.3:c.792G>A
• NP_003352.2:p.(=)
• NR_165456.1:n.1017G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs13335818

NCBI 1000 Genomes Browser:

rs13335818

Molecular consequence:

• NR_165456.1:n.1017G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001008389.3:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278614.2:c.891G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378232.1:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378233.1:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378234.1:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378235.1:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378237.1:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003361.4:c.792G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

23