ClinVar

NM_015404.4(WHRN):c.2283C>T (p.Ser761=)

Gene:

WHRN:whirlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

• Chr9: 114404031 (on Assembly GRCh38)
• Chr9: 117166311 (on Assembly GRCh37)

Preferred name:

NM_015404.4(WHRN):c.2283C>T (p.Ser761=)

HGVS:

• NC_000009.12:g.114404031G>A
• NG_016700.1:g.106426C>T
• NM_001083885.3:c.1134C>T
• NM_001173425.2:c.2280C>T
• NM_001346890.1:c.1230C>T
• NM_015404.4:c.2283C>TMANE SELECT
• NP_001077354.2:p.Ser378=
• NP_001166896.1:p.Ser760=
• NP_001333819.1:p.Ser410=
• NP_056219.3:p.Ser761=
• LRG_1094t1:c.2283C>T
• LRG_1094:g.106426C>T
• LRG_1094p1:p.Ser761=
• NC_000009.11:g.117166311G>A
• NM_015404.2:c.2283C>T
• NM_015404.3:c.2283C>T
• c.2283C>T
• p.Ser761Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs34963246

NCBI 1000 Genomes Browser:

rs34963246

Molecular consequence:

• NM_001083885.3:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001173425.2:c.2280C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001346890.1:c.1230C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015404.4:c.2283C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

383